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GI Boards Study > GI Boards! > Flashcards

GI Boards! Flashcards

1
Q

When is the esophagus created and from what part of embryonic development?

A

4 weeks

Foregut

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2
Q

What is the initial cell type of the esophagus?

A

ciliated columnar epithelium

Later on….

Majority of the esophagus is composed of stratified squamous epithelium

Distal esophagus is lined with columnar epithelium (transition at the diaphragm)

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3
Q

When is the esophageal lumen created and what tissue does it turn to?

A

10 weeks

Stratified squamous at 16 weeks

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4
Q

What is the length of the esophagus and birth to adulthood?

A

Birth 8-10 cm

Doubles in first year of life

Adult 18-25 cm

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5
Q

What type of muscle is the UES?

A

Skeletal muscle

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6
Q

What type of muscle is the LES?

A

Smooth muscle

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7
Q

What is the esophageal musculature composed of?

A

Upper 1/3: Striated

Middle 1/3: Mixed

Lower 1/3: Smooth

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8
Q

What is the afferent innervation of the esophagus?

A

Vagus nerve: pain, temperature

Spinal nerve: mechanosensitive information and nociceptors

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9
Q

What is the efferent innervation of the esophagus?

A

Vagus: motor innervation

Parasympathetic: vagus nerve

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10
Q

What is the arterial supply for the three parts of the esophagus?

A

Upper esophagus: superior and inferior thyroid muscles

Midesophagus: Bronchial and rightintercostal arteries, descending aorta

Lower esophagus: left gastric, left inferior phrenic, splenic arteries

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11
Q

What is the venous supply for the three parts of the esophagus?

A

Upper: SVC

Mid: Azygous

Lower: Portal Vein

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12
Q

What type of epithelium and cells is the gastric cardiac mucosa composed of?

A

Epithelium: columnar epithelium with tubular glands

Cells: mucin-producing cells, parietal cells, and rarely chief cells

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13
Q

What is normal resting pressure of the LES? What is low pressure and its causes?

A

Normal: 20-30 mmHg

Low is < 10 mm Hg and can be caused by theophylline, nitroglycerin, botulism, inflammation, hiatal hernia, smooth muscle disorders

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14
Q

What are causes of increase LES pressure?

A

Increased intraabdominal pressure leading to upward displacement of the LES

External abdominal pressure

Cholinergic agents like gastrin and bethanochol

Achalasia and esophageal spasm

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15
Q

What is the most common type of foregut malformation?

A

Esophageal duplication: cysts, diverticulae that lay in the esophageal wall and are covered by 2 muscle layers

GASTRIC mucosa is seen in duplications and can erode through wall due to acid production

VERTEBRAL ANOMALIES

Dx: Upper GI or Chest CT

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16
Q

What is the most common cause of esophageal stenosis?

A

Tracheobronchial rest - abnormal separation of the foregut into the trachea and esophagus

Found in distal esophagus, within 3 cm of gastric cardia

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17
Q

What part of the esophagus do you find fibromuscular stenosis and membranous webs?

A

middle third of the esophagus

TBR is found in the distal esophagus

TBR and fibromuscular stenosis can be associated with TEF and esophageal atresia

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18
Q

Why does a TEF have abnormal peristalsis?

A

Disruption of the vagus nerve because the GE sphinter is typically incompetent

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19
Q

What is the most common TEF anomaly?

A

Upper esophageal atresia with distal fistula to the trachea

Associated with GU, cardiac, MSK, VACTERL defects

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20
Q

What syndromes are associated with TEFs?

A

Colobomas, heart defects, choanal atresia, slow growth, CHARGE, VACTERL, Fanconi, Tris21, Potter Syndrome

Prenatal history of polyhydramnios

Long term risk of Barrett’s Esophagus

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21
Q

Where do you find esophageal webs?

A

Proximal Esophagus

Associated with TEF and Zenker, Epidermolysis Bullosa, SJS

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22
Q

What is the triad associated with Plummer-Vinson Syndrome?

A

Esophageal web associated with glossitis, iron deficiency anemia, and spoon nails

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23
Q

Where are esophageal rings usually found?

A

Distal Esophagus

B ring: Shatzki ring is most common type usually associated with EoE and hiatal hernias

Diagnose with barium studies

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24
Q

Heterozygous mutation in ABCB4 gene

Responsible for the secretion of phospholipids into bile

A

PFIC

Found in 30% of people with idiopathic biliary sludge, stones, recurrent cholestasis

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25
Q

What is the mechanism of action of biliary/TPN stasis?

A

lack of GB stimulation leads to decreased acidification of bile and increased precipitation of calcium salts

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26
Q

What causes Gilbert’s Syndrome?

A

Decreased conjugation activity of UGT1A1

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27
Q

Increased beta-glucoronidase activity in the GB leads to?

A

increased deconjugation of previously conjugated bilirubin which leads to increased production of stones

Can be seen in E coli and helminthic infections

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28
Q

What conditions is acute acalculous cholecystitis associated with?

A

Sepsis
Gastroenteritis
Trauma
Extensive burns
Shock
IV nutrition and prolonged fasting
Lupus
Kawasaki
Polyarteritis Nodosa
CHF

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29
Q

What are common infectious causes of acute acalculous cholecystitis?

A

EBV
Hep A
CMV
Salmonella
Staph aureus
Plasmodium

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30
Q

Abnormal GB contractility as measured by dexreased gallbladder ejection fraction on HIDA scan

A

Chronic Acalculous cholecystitis or biliary dyskinesia

Chronic RUQ pain with normal labs and imaging

Dx: HIDA scan before and after fatty meal or cholecystikinin to calculate GB EF (<35% is abnormal)

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31
Q

How is bile conjugated?

A

Circulates bound to albumin and then is selectively imported into hepatocytes where it is conjugated to glucoronic acid to make it water soluble by UGT

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32
Q

Defective hepatocyte reuptake and storage of circulated conjugated bilirubin with normal LFTs and elevated TBili

A

Rotor Syndrome

AR, absent OATP1B

Episodic jaundice precipitated by pregnancy or steroids, no treatment

CONJUGATED hyperbili, normal liver function, INCREASED urine total coproporphyrin

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33
Q

Defective secretion of conjugated bile into bile canaliculi

A

Dubin-Johnson Syndrome

Defect in ABCC2 gene, AR
Mutations in MRP-2

Presents with chronic, low grade, nonpruritic jaundice, mild hepatomegaly, scleral icterus

Increased in use of OCPs and pregnancy

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33
Q

What abnormal labwork would you find in Dubin Johnson Syndrome?

A

50% conjugated and unconjugated hyperbili

Normal liver function

No hemolysis

Normal urine total coproporphyrin

Biopsy not required but tissue with be BLACK

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34
Q

Mutation in UGT1A1 resulting in decreased enzymatic activity

A

Gilbert Syndrome, AR

Defective conjugation of bile

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34
Q

Complete mutation of UGT1A1 resulting in no enzyme activity

A

Crigler-Najjar Syndrome, AR

No enzyme activity in Type I and < 10% activity in Type II

Type I is high risk of kernicterus

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35
Q

What is the treatment for Type I Crigler Najjar Syndrome?

A

Lifeling phototherapy for 8-12 hours per day

Exchange transfusions

Consider liver transplant

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36
Q

What is the treatment for Type II Crigler Najjar Syndrome?

A

Lifelong Phenobarbitol therapy to induce remaining UGT1A1 activity to conjugate bilirubin

Oral binding agents like cholestyramine, calcium phosphate to prevent enterohepatic reuptake of bilirubin

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37
Q

Defect in ________ results in increased _______ in endoplasmic reticulum of hepatocytes

A

A1AT deficiency

AR, MM is normal phenotype

ZZ is A1AT DEF

Counsel against smoking

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38
Q

Decreased galactose 1 phosphate uridyltransferase which can present with hypoglycemia and hepatomegaly

A

Galactosemia

Consider in kids with absent red reflexes/cataracts and neonates with E coli sepsis

Galactose is usually present in the urine as increased reducing substances

Long term side effects are mental retardation and premature ovarian failure regardless of compliance with diet

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39
Q

Mild increase in LFTs with coagulopathy that is out of proportion to LFTs

A

Tyrosinemia

Increased urine succinylacetone

Normal Factor V and VIII so coagulopathy is not usually responsive to Vitamin K

Treat with NTBC - an inhibitor of an enzyme in the tyrosine degradation pathway

Restrict tyrosine and phenylalanine from diet

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40
Q

Defect in canalicular surface protein FIC1. Abnormalities in this protein lead to defective phospholipid translocation across the hepatocyte membrane.

Low/normal GGT

A

PFIC 1

Growth failure and diarrhea

Presents in neonatal period or later

After failure of pharmacologic therapy in PFIC-1 and -2, the most appropriate intervention for relieving pruritus is a biliary diversion procedure

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41
Q

Defect in bile salt export pump

Low/normal GGT

A

PFIC II

Mutation in BSEP affecting bile salt transport into canaliculis

Can have severe pruritis

High risk for hepatocellular carcinoma

After failure of pharmacologic therapy in PFIC-1 and -2, the most appropriate intervention for relieving pruritus is a biliary diversion procedure. Both procedures decrease the enterohepatic circulation of bile acids and hence relieve pruritus

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42
Q

Mutation in gene cording transporter MDR3

High GGT

A

PFIC III

Mutation in gene encoding transporter MDR3 which affects secretion of phosphatidylcholine secretion into bile canaliculi

Can present later in life

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43
Q

What factors increase the risk of vertical transmission of Hep C?

A

Most important is HIV status. Those infected with Hep C and HIV have double the risk of vertical transmission than those without HIV

Mothers HCV viral load at time of delivery

High maternal ALT before conception and at time of delivery can increase risk

Hep C virus genotype is not a risk factor

Cracked nipples can be a contraindication to breastfeeding because of risk of transmission of HCV contaminated breast milk

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44
Q

What stool test can be performed to evaluate for carb malabsorption?

A

Stool pH

Will be low

abdominal distention, nonbloody diarrhea, poor weight gain

Can also have a positive reducing substances in those with glucose, fructose, lactose, and galactose malabsorption

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45
Q

How do you calculate and interpret the stool osmotic gap?

A

290-2 (stool Na + stool K)

< 50 is a secretory diarrhea. This persists despite fasting.

Greater than 100 is an osmotic diarrhea

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46
Q

Malabsorption and fermentation by colonic bacteria that results in vomiting, abdominal distention, flatulence, osmotic diarrhea, and pronounced diaper rash from stool acidity

A

Sucrase Isomaltase deficiency

AR

Sucrose = glucose + fructose

Diagnose via sucrose breath test or measure sucrose-isomaltase activity from intestinal biopsy

Reducing substances are only sometimes positive because sucrose is not a reducing substance but colonic bacteria may break it down to glucose or fructose

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47
Q

Patients with X-linked Hyper-IgM syndrome are at high risk for what?

A

Respiratory and enteric infections, particularly cryptosporidium

Treat with nitazoxanide plus azithro

Can invade the biliary tract and cause RUQ pain, increased LFTs/Bili/GGT

Can lead to cholangitis, cirrhosis, cryptosporidium

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48
Q

How do NSAIDs lead to gastritis?

A

They disrupt prostaglandin production which leads to decreased production of bicarb and mucin which help to protect the mucosal layer in the stomach

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49
Q

If a patient is on a PPI, how long after stopping can you test for H pylori?

A

It is recommended that testing only be performed at least 2 weeks after stopping a PPI and 4 weeks after stopping antibiotics

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50
Q

What is a schatzki ring?

A

Most common esophageal web

Distal esophagus

Associated with hiatal hernia and EoE

Dx: Esophagram or Endoscopy

Tx: dilation or resection

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51
Q

What is the resting pressure of the UES?

A

30-80 mm Hg

Striated muscle

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52
Q

Simultaneous esophageal contractions after >20% of swallows

A

Esophageal spasm

LES relaxation is normal

Treatment with Ca channel blockers or anticholinergics

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53
Q

Very strong simultaneous esophageal body contractions with odynophagia

A

Nutcracker esophagus

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54
Q

What vascular anomalies can lead to dysphagia?

A

Double and right aortic arch
(when ligamentum arteriosum compresses the esophagus)

Aberrant right subclavian artery

MRA is best modality for diagnosis

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55
Q

What are potential side effects from use of PPIs?

A

increased resp/GI infections

hip and spine fractures

iron deficiency anemia

hypomagnesemia

hyperGASTRINemia with polyps and atrophic gastritis

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56
Q

What are the histiologic findings of Barrett’s Esophagus?

A

Replacement of squamous epithelium in the distal esophagus with metaplastic columnar epithelium

Presence of intestinal type epithelium is associated with an increased risk of esophageal adenocarcinoma

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57
Q

What are the recommendations for endoscopic surveillance of Barrett’s Esophagus?

A

Adult Recommendations:

No dysplasia: scope every 3-5 years

Low-grade dysplasia: every 6-12 months

High-grade dysplasia: every 3 months

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58
Q

What are the endoscopic and histiologic findings of an HSV infection in the esophagus?

A

Herpetic vesicles in the first 2 days

Volcano ulcers - distinct round lesions with yellow borders, after a few days

Histology:
- nuclear inclusions
- multinucleate giant cells
- prominent mononuclear cell infiltrates

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59
Q

What are the endoscopic and histiologic findings of a CMV infection in the upper GI tract?

A

Ulcers similar to HSV but deeper and more linear in the esophagus

Basophilic nuclear inclusions from edge of ulcer

Associated with hypertrophic gastropathy - Menetrier’s Disease

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60
Q

What are the endoscopic and histiologic findings of an HIV infection in the esophagus?

A

“Giant ulcers” seen in primary HIV infection

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61
Q

How does TB cause dysphagia?

A

Upper GI series can show significant lymphadenopathy which can displace the esophagus

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62
Q

What is the classic result of an infection with Trypanosoma cruzi?

A

Megaesophagus

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63
Q

What are the 5 treatment options for EoE?

A
  1. Topical steroids
    • Fluticasone 880mcg/day or Viscous budesonide 1-2 mg BID
  2. Directed elimination diet
    • dictated by food allergies found on skin testing
  3. 6/7 food elimination diet
    • mlk, soy, egg, wheat, peanut, treenut, fish/shellfish
  4. Elemental diet
  5. PPI-REE
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64
Q

Cell-mediated reaction during infancy if vomiting, diarrhea, lethargy, dehydration within hours of ingestion of particular foods. Symptoms do not recur once these foods are eliminated from the diet.

A

FPIES

Treatment is to avoid triggers (can potentially do a food challenge test)

Usually outgrown once toddler age

Non-IgE mediated

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65
Q

Causes coagulation necrosis

A

Acidic agents

limits penetration by formin an eschar so damage is to the superficial mucosa

Acidic household solutions include toilet bowl cleaners, rust removers, and swimming pool cleaners

acidic solutions are unpalatable, resulting in gagging and potential aspiration and airway trauma.

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66
Q

Causes liquefaction necrosis

A

Alkaline agents

very rapid transmural inflammation and edema with risk of perforation

bases are tasteless and more likely to cause esophageal trauma because a large amount is swallowed

Household alkaline solutions include oven and drain cleaners, dishwashing detergents, and hair straighteners

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67
Q

WHat characteristics of foreign bodies warrant urgent endoscopic evaluation?

A

Ingested object that is sharp, long > 5 cm

High powered magnet

Disk battery in the esophagus

Signs of airway compromise

Evidence of esophageal obstruction

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68
Q

What do the following gastric endoscrine cells secrete?

  1. G cells
  2. Gastric D cells
  3. Enterochromaffin-like cells
  4. Enterochromaffin cells
A
  1. Gastrin
  2. Somatostatin
  3. Histamine
  4. Atrial natriuretic peptide and melatonin
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69
Q

What do parietal cells do?

A

Secrete intrinsic factor and gastric acid

Pink on H&E

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70
Q

What do chief cells do?

A

Secrete pepsinogen I and II

Blue on H&E

Base of the glands

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71
Q

What do foveolar cells do?

A

Produce protective mucus and line the primitive gastric crypts

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72
Q

Benadryl
Hydroxizine
Meclizine
Dimenhydrinate

A

MOA: vestibular suppression, anti-ACh effect, H1 antagonist

Indications: motion sickness

SE: sedation, anti-Ach effects

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73
Q

Promethazine
Prochloperazine
Chlorpromazine

A

MOA: D2 antagonist and H1 antagonist

Indication: chemo-induced nausea

SE: anti-ACh and extrapyramidal effects

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74
Q

Reglan

A

MOA: D2 antagonist at CTZ and 5-HT4 agonist in the gut

Indications: gastroparesis, GERD, chemo-induced nausea

SE: irritability, extrapyramidal effects

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75
Q

Zofran and other -setrons

A

5-HT3 antagonist at CTZ and decreased vagal afferents in the gut

Good for chemo or post op nausea/vomiting

SE: headache

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76
Q

Aprepitant

A

NK1 antagonist on emesis program

SE: fatigue, dizziness, and diarrhea

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77
Q

Scopolamine

A

Vestibular suppression and anti-ACh

Can have sedation and anti-ACh effects

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78
Q

Droperidol

A

D2 antagonish at CTZ and anxiolytic action and sedation

SE: hypotension, sedation, extrapyramidal side effects

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79
Q

Sumitriptan and other -triptans

A

5-HT1b/1d agonists that induce cerebral vasoconstriction and relaxes the gastric fundus

SE: burning in the chest and neck

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80
Q

Cyproheptadine

A

H1 antagonist and 5-HT2 antagonist

Used to prevent migraines, abdominal migraines, or cyclic vomiting

SE: sedation, weight gain

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81
Q

Amitriptyline

A

5-HT2 antagonist and increased synaptic NE

Used to prevent migraines, abdominal migraines, or cyclic vomiting

SE: QT prolongation

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82
Q

Phenobarbitol

A

GABA-A inhibition results in increased Cl current

Prevents cyclic vomiting

Can cause cognitive and learning defects

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83
Q

Presentation at 4 years of age

Post-gastrienteritis anasarca

A cause of hypoalbuminemia in kids who don’t have proteinuria

Benign in kids, premalignant in adults

A

Menetrier Disease

Associated with CMV

Giant gastric folds, increased mucus secretions, decreased acid secretion, PLE

Can self-resolve in immunocompetent children

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84
Q

Differential for giant gastric folds

A

Lymphoma
H pylori
CMV
Lupus
Plasmacytoma
Granulomatous gastritides

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85
Q

How long does it take to develop PPI gastropathy?

A

10-48 months

Endoscopic finding: body and antrum studded with 1-2 mm polyps

Foveolar hyperplasia with glandular dilation, hyperplastic

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86
Q

What are the histiologic findings of graft vs host disease?

A

21-100 days post transplant

Early: crypt cell apoptosis and drop out

Advanced: gastric ulceration, edema, fibrosis, and perforation

Extensive bile duct damage

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87
Q

immune complex mediated vasculitis of small and medium sized vessels

Peaks at 4-6 years of age

Involves skin, GI tract, joints

Presents with abdominal pain, vomiting, GI bleed

A

Henoch-Schonlein Purpura

Histolofy: leukocytoclastic vasculitis

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88
Q

Achlorhydria

Intrinsic factor deficiency

B12 deficiency

Endoscopy: absent or thin rugae

A

Pernicious anemia

Histology: atrophic fundic gland gastritis and absence of parietal cells

Complication of gastric adenocarcinoma

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89
Q

Excess histamine and cyytokines leads to gastric hypersecretion

Urticaria pigmentosa

Normal gastrin levels

Endoscopy shows gastric and duodenal ulcers and urticaria like papules

A

Systemic Mastocytosis

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90
Q

How does PPI therapy help patients with short bowel syndrome?

A

improves water absorption

In SBS, there is gastric hypersecretion because there is no negative feedback for inhibiting gastrin secretion –> PUD

May also worsen nutritional status by inactivating pancreatic lipase and deconjugating bile salts

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91
Q

What is the first line therapy for H pylori?

A

7-14 day course

PPI+Amox+Clarithromycin
PPI+Amox+Imidazole
Bismuth+Amox+Imidazole

Don’t use clarithromycin for treatment failure

Dont use tetracycline in kids < 12 years of age

when culture and susceptibility testing is unavailable, empiric treatment with high-dose amoxicillin, metronidazole, and a proton pump inhibitor (PPI) is recommended

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92
Q

What are the most common gastric neoplasms?

A

Non-Hodkins Lymphoma and Sarcomas

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93
Q

Multiple gastric polyps (fundic gland type > adenomatous)

Fundic gland polyps may have neoplastic potential and require screening

A

Familial Adenomatous Polyposis Syndrome

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94
Q

Spindal or epithelioid mesenchymal neoplasm arising from interstitial cells of Cajal

Increased incidence in women

Cells express cKit and CD34

Rare in children

Present as GI bleeds

A

GI stromal tumor

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95
Q

Will an object > 5cm in length or 2 cm in diameter pass the pylorus?

A

No!

In younger children, items > 3 cm in length may not pass pylorus

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96
Q

Usually villous atrophy is seen with crypt hyperplasia. What should you think of when there is villous flattening without crypt hyperplasia or inflammation?

A

Microvillous inclusion disease

Intractable diarrhea in the first week of birth and severe dehydration

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97
Q

Localized in the duodenum

Concentrated just distal to the gastroduodenal junction

Collection of glands in the submucosa that protext the duodenal mucosa from gastric acid contents –> increased luminal pH

A

Brunners glands

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98
Q

Suppresses appetite by decreasing gastric emptying and secretion

A

Cholecystokinin

Comes from the I cells in the mucosal epithelium in the small bowel

Promotes gallbladder contraction and pancreatic enzyme secretion

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99
Q

Induces satiety by increasing gastric acid secretion and decreasing gastric emptying

A

Gastrin-releasing peptide

Secreted by G cells in the antrum in response to vagal stimulation

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100
Q

Centrally mediated appetite suppression in response to fat absorption

A

Apolipoprotein a-IV

CNS receptors

Found in the intestinal mucosa

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101
Q

Decreases appetite

A

Leptin

From adipocytes

Receptors are in the hypothalamus

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102
Q

Decreases appetite by slowing gastric emptying and decreasing pancreatic secretion

A

Peptide Tyrosine-Tyrosine (PYY)

Found in L cells in ileum and colon

Act on Neuropeptide Y receptors in the CNS

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103
Q

Decreased pancreatic exocrine secretion, gallbladder contraction, and gut motility

A

Pancreatic Polypeptide (PP)

Found in pancreatic endocrine cells (F cells)

PP receptors are in the pancrease, GI, CNS

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104
Q

Decreases gastric motility and contributes to satiety by decreasing absorption of CHOs

A

Glucagon-like peptide (GLP)

Found in ileal L cells

GLP-1 receptors found in the pancreas

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105
Q

Decreases appetite by binding to GLP-1 receptors

A

Oxyntomodulin

Found in oxyntic cells in the colon

Binds to GLP-1 and glucaogin receptors in the pancreas

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106
Q

Increases hunger and secretion of growth hormone

A

Ghrelin

Located in D cells in the stomach and episolin cells in the pancreas

There are ghrelin receptors in the hypothelamus and pituitary glands

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107
Q

What are reasons for a false positive technetium 99 scan?

A

intestinal duplication with heterotropic mucosa

obstructed loops of bowel

intussusception

AVM

Ulcers

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108
Q

What are reasons for a false negative technetium 99 scan?

A

inadequate gastric mucosa in diverticulum

dilution of tracer from high bleeding rate

poor blood supply from diverticulum

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109
Q

What is the Pentology of Cantrell?

A

Omphalocele + midline defects

Defects in diaphragm, sternum, pericardium, and heart

Omphaloceles have increased maternal AFP

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110
Q

What is the most common site for intestinal atresias and which are the worst defects?

A

jejunum-ileum
- Type IIIb - apple peel deformity
- multiple sites (string of sausages)

Caused from failure of recanalization of bowel lumen at weeks 8-10 gestation

Think of association with polyhydramnios

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111
Q

What constitutes a Ladd’s procedure?

A

Untwist bowel
Divide Ladd’s bands
Widen the mesenteric base and pedicle
Appendectomy (preventative)

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112
Q

What is the mechanism of action of celiac disease?

A

Celiac disease is the result of gluten-mediated increased intestinal permeability and activation of adaptive and innate immunity

DQ2/DQ8 on antigen presenting cells present bound deamaidated gluten peptides to CD4+ lymphocytes to initiate an immunologic reaction

Tissue transglutaminase deamindates gluten resulting in increased binding to antigen presenting cells

IL-15 increases number of local intraepithelial lymphocytes

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113
Q

How do you test for celiac disease?

A

Obtain IgA level and TtG IgA

Endomysium IgA is just as effective but costs more

IgA and IgG antibodies against gliadin are not recommended due to low accuracy

Patients should be consuming gluten for greater than or equal to 4 weeks

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114
Q

How do you test for celiac disease in kids < 2 year of age?

A

Deamindated gliadin IgA and IgG

Patients should be consuming gluten for greater than or equal to 4 weeks

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115
Q

How do you test for celiac disease in patients with IgA deficiency?

A

tTG IgG +/- deamindated gliadin IgG

Patients should be consuming gluten for greater than or equal to 4 weeks

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116
Q

How do you test for celiac disease in patients who are already gluten free and do not want to pursue a gluten challenge?

A

HLA DQ2/DQ8 testing

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117
Q

How should you manage a patient who has tested positive for celiac?

A

Small bowel biopsies can take 6-12 months to normalize

Recheck tTG IgA every 6 months after to ensure compliance and response

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118
Q

What nutritional deficiency is associated with tropical sprue?

A

Folate deficiency

Increased serum folate concentrations in patients with SIBO because bacteria produces more folate

Can also have low Vit D, Phos, Ca, Mag because of impaired micronutrient absorption

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119
Q

How do you treat Tropical Sprue?

A

Moving to a temperate zone doesnt usually help like it does for tropical enteropathy

Tetracycline 250 mg QID plus folic acid 5 mg daily for 3-6 months

B12 def with weekly injections

Iron and folic acid repletion

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120
Q

What do the biologic agents that treat IBD work on?

A

Cytokines!

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121
Q

Name a gut specific biologic and how does it work?

A

Vedoluzimab (Entyvio)

Decreases leukocyte trafficking to sites of intestinal inflammation without inhibiting immune cell trafficking to other organs (no extraintestinal involvement)

Alpha 4 Beta7 integrin helps mediate leukocyte homing to the gut and vedoluzimab inhibits this

Vedolizumab has been shown to be superior to adalimumab in achieving clinical remission and endoscopic improvement in adults who have ulcerative colitis.

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122
Q

What is the mechanism of action of infliximab and adalimumab (Remicade and Humira)?

A

They bind and inhibit tumor necrosis factor

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123
Q

What is the mechanism of action of Ustekinumab (Stelara)?

A

Inhibits interleukin 12 and 23

Increased risk of posterior leukoencephalopathy syndrome

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124
Q

What is the mechanism of action of Natalizumab (Tysabri)?

A

Inhibits alpha 4 integrin

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125
Q

What is the mechanism of action of tofacitinib (Xeljanz)?

A

Inhibits Janus Kinase enzymes

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126
Q

Name the diagnosis:

RUQ pain, fever, weight loss, pruritis, jaundice. Can sometimes be asymptomatic.

Associated with IBD and AIH

A

Sclerosing cholangitis

inflammation and fibrosis/strictures of the medium and large size bile ducts in the intraheptic and extrahepatic biliary tree

Can result in biliary cirrhosis and end-stage liver disease

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127
Q

What abnormal lab work is typical of PSC and how do you treat it?

A

Increased LFTs, DBili, GGT, and Alk Phos

Therapy: management of complications of chronic liver disease

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128
Q

How do you diagnose PSC?

A

Gold standard is cholangiography

ERCP shows irregular narrowing and stricture of hepatic and common bile ducts. BEADED APPEARANCE of biliary tree

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129
Q

What findings would you see on liver biopsy in a diagnosis of PSC?

A

Fibrous obliteration of small bile ducts with concentric fibrous tissue rings

“ONION SKIN” appearance

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130
Q

Name the diagnosis:

AR disease resulting in ductal plate malformation of small interlobular bile ducts and resultant biliary strictures and periportal fibrosis

A

Congenital Hepatic Fibrosis

Associated with ARPKD so can have renal dysfunction

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131
Q

What are the 3 different types of Congenital Hepatic Fibrosis and how can they present?

A

Portal Hypertensive - can present with variceal bleed

Cholangitis

Latent

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132
Q

What are the liver biopsy findings of Congenital Hepatic Fibrosis?

A

Fibrous enlargement of portal tracts with abnormally shaped bile ducts

Portal vein branches are often hypoplastic while hepatic arterial branches can increase in number

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133
Q

What is the difference between Caroli’s Disease and Caroli’s Syndrome?

A

Caroli’s Disease: less common and disease limited to extasia or segmental dilation of the LARGE intrahepatic biliary tree. No other hepatic disease present

Caroli’s Syndrome: More common, AR, Bile duct dilation of SMALL OR LARGE intrahepatic bile ducts. Can have fibrosis of the liver

Both present with jaundice, pruritis, and cholangitis

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134
Q

How do you diagnose Caroli’s disease/syndrome?

A

US, MRCP, ERCP, CT

Imaging shows biliary ectasia and irregular cystic dilation of large proximal intrahepatic bile ducts

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135
Q

Paucity of bile ducts affecting the liver, heart eyes, face, skeleton caused by disorders in JAG1 and NOTCH

A

Alagille’s Syndrome

Not all end up with liver failure. Some can have spontaneous improvement in cholestasis by age 5 years

Rapidly declining total bilirubin between 12 to 24 months (<3.8 mg/dL) is associated with better outcomes.

Persistent cholestasis, fibrosis on biopsy, and xanthomata are predictors of severe liver disease.

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136
Q

Congenital abnormality of the biliary tree characterized by cystic dilation of intra and extrahepatic segments of the biliary tree

A

Choledochoal cystsH

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137
Q

How do choledochal cysts present and how do you diagnose them?

A

abdominal pain, jaundice, palpable RUD mass and cholestasis

diagnose via US

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138
Q

What are the 4 types of choledochal cysts?

A

I: most common, large cystic dilation of the common bile duct

II: diverticulum of the common bile duct or GB

III: intraduodenal choledochocele

IV: multiple cysts both intra and extra hepatic

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139
Q

How do you treat choledochoal cysts and what are treatment complications?

A

Surgical resection with Roux-en-Y choledochojejunostomy proximal to the most distal dilation

Post-op strictures, cholangitis*, pancreatitis

Risk of malignancy to adenocarcinoma if there is remnant cystic tissue

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140
Q

Name the medication, SE, and CI:

Used to treat pruritis

5 mg/kg/day divided into 4 doses

H1 receptor blocker, competes with histamine for H1-receptor sites

Blocking receptors decreases sensitization and itching

A

Benadryl

SE: sedation, blurred vision, drymouth

CI: asthma, encephalopathy

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141
Q

Name the medication, SE, and CI:

Used to treat pruritis

2 mg/kg/day divided into 4 doses

Competes with histamine on H1 receptor sites

A

Hydroxyzine

SE: drowsiness, blurry vision, xerostomia

CI: caution with asthmatics

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142
Q

Name the medication, SE, and CI:

Used to treat pruritis

Reduces toxicity of endogenous bile acids by competitively inhibiting intestinal absorption

A

Ursodeoxycholic acid

SE: abdominal pain, diarrhea, nausea

CI: hypersensitivity

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143
Q

Name the medication, SE, and CI:

Used to treat pruritis, is a bile binding resin

binds bile acids in the intestine forming nonabsorbable complexes, preventing enterohepatic reuptake of bile salts

240 mg/kg/day divided into 3 doses

A

Cholestyramine

SE: nausea, vomiting, abdominal pain

CI: complete biliary obstruction, bowel obstruction

Can interfere with absorption of other medications so make sure all other drugs are given 2 hours before or after

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144
Q

Name the medication, SE, and CI:

Used to treat pruritis

Bactericidal antibiotic that may inhibit toxic bile acid uptake and degrade bile acids

A

Rifampin

SE: orange discoloration or urine, sweat, tears, increased LFTs, hemolytic anemia

CI: hypersensitivity reaction

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145
Q

Name the medication, SE, and CI:

Used to treat pruritis

Binds competitively with opioid receptors without activating them

A

Naloxone or Naltrexone

Not evaluated in children

SE: headache, insomnia, withdrawal

CI: LIVER FAILURE

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146
Q

What does an AST:ALT ratio <1 indicate?

> 2?

> 4?

A

NAFLD

Alcoholic liver disease

Fulminant Wilson Disease

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147
Q

What does disproportionate rise in AST indicate?

Isolated increased AST?

A

Disproportionate rise indicates hemolysis, rhabdomyolysis, myocardial disease, recent vigorous physical activity

Isolated increase represents macro-AST when the enzyme complexes with immunoglobulin cant be cleared

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148
Q

What dimensions indicate hepatomegaly?

A

Liver edge > 3.5 cm in children < 2 years of age

> 2cm below the costal margin in older children

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149
Q

What are normal liver size parameters?

A

1 week: 4.5-5 cm

12 years:
- Boys 7-8 cm
- Girls 6-6.5 cm

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150
Q

What defines portal hypertension?

A

portal pressure > 10 mm Hg or a hepatic venous pressure gradient > 5 mm Hg

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151
Q

What are prehapetic causes of portal hypertension?

A

PVT

AV fistula

Splenic vein thrombosis

Congenital stenosis or external compression of the PV

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152
Q

What are hepatocellular causes of portal hypertension?

A

AIH
A1AT
Wilson’s Disease
Toxins
Fatty Liver
Infection

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153
Q

What are post-hepatic causes of portal hypertension?

A

Bidd-Chiari Syndrome
CHF
Constrictive pericarditis
IVC obstruction

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154
Q

Wedged Hepatic Venous Pressure: normal

Hepatic Venous Portal Gradient Measurements: normal

Hepatic Venous Portal Gradient: normal

A

Prehepatic portal venous obstruction

PVT
AV fistula
Splenic vein thrombosis
Congenital stenosis or external compression of the PV

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155
Q

Wedged Hepatic Venous Pressure: mildly elevated

Hepatic Venous Portal Gradient Measurements: normal

Hepatic Venous Portal Gradient: normal

A

Intrahepatic PHT (presinusoidal)

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156
Q

Wedged Hepatic Venous Pressure: Increased

Hepatic Venous Portal Gradient Measurements: normal

Hepatic Venous Portal Gradient: Increased

A

Intrahepatic PHT (sinusoidal)

Cirrhosis

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157
Q

Wedged Hepatic Venous Pressure: increased

Hepatic Venous Portal Gradient Measurements: increased

Hepatic Venous Portal Gradient: normal

A

Posthepatic venous obstruction

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158
Q

What finding on doppler indicates severe PHT?

A

Hepatofugal flow (flow away from the liver)

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159
Q

oxygen partial pressure < 70 mm Hg or an increase in alveolar-arterial 02 gradient > 15 mm Hg

Associated with PHT

hypoxia is common

diagnosed via bubble echo

A

Hepatopulmonary syndrome

Bubble echo shows intrapulmonary vascular dilation

Only treatment is liver transplant

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160
Q

Pulmonary artery HTN in a patient with PHT

Fatigue, chest pain, syncope, dyspnea

Tricuspid regurg

A

Portopulmonary HTN

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161
Q

What are the indications for a TIPS procedure?

A

Extrahepatic PVT
Variceal bleeding refractory to endoscopy or medication
Refractory ascites
Complications of hypersplenism
Portosystemic encephalopathy

Do not perform in patients who will undergo liver transplant

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162
Q

Forms a communication between the hepatic and portal vein thus decreasing portal pressure

A

TIPS

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163
Q

Name the diagnosis:

Female, hepatomegaly, clinical signs of congestive heart failure, +/- abdominal mass

Abnormal LFTs, increased TSH, low platelets, mildly elevated AFP, and coagulopathy

A

Hepatic Hemangioendothelioma

US shows multifocal lesions in the liver
CT shows hypoattenuated lesions which can show “halo” enhancement

Tx: STEROIDS!!!
Vascular lesions usually regress spontaneously

Has malignant potential

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164
Q

How does CFTR mutation manifest in the pancreas?

A

Limits fluid secretion in the pancreas resulting in more viscous, acidic fluid in the pancreatic ducts

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165
Q

When performing a diagnostic paracentesis, what labs should you send on the ascitic fluid?

A

WBC and RBC Counts

Albumin, Total Protein, Glucose, Bilirubin

LDH, Amylase, TG

Bacterial culture, acid fast, cytology

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166
Q

What is SAAG and what does it measure?

A

Serum ascites-albumin gradient

Difference of simultaneously measured albumin in serum and ascitic fluid

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167
Q

What does a SAAG less than or equal to 1.1 g/dL indicate?

A

This effectively rules out PHT as a cause for ascites

Neoplasm
Nephrotic Syndrome
PLE
Crohns
Eosinophilic Enteropathy
HSP
Pancreatitis

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168
Q

How do you treat ascites?

A

Sodium restriction: 1-2 Na mEq/kg/day or 1-2 g Na per day

Diuretics: Aldactone and Lasix

Fluid restriction if Na is less than 125-130 (USE HYPOtonic fluids)

IV albumin

Paracentesis

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169
Q

What is the mechanism of action and dosing of Aldactone?

A

Competitive inhibitor of aldosterone in renal tubules and increases excretion of Na+ and Cl -

0.5-1 mg/kg/day divided TID

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170
Q

What is the mechanism of action of Lasix and dosing?

A

Inhibits reabsorption of Na and Cl in the kidneys

Dosing is 0.5-2 mg/kg/day divided in 2-4 doses

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171
Q

How do you diagnose and treat SBP?

A

By measuring the number of PMNs in ascitic fluid

> 250 PMN/mm^2

Ceftriaxone or Zosyn

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172
Q

How do you define acute liver failure in the pediatric population?

A

INR > 1.5 with hepatic encephalopathy

INR > 2 without hepatic encephalopathy

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173
Q

Low alk phos

High bili:alk phos ratio

Hemolytic anemia

A

Wilson’s Disease

Can have normal ceruloplasmin in ALF

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174
Q

Infant consuming lactose-containing formula with positive reducing substances and associated with gram-negative sepsis (spec E coli)

A

Galactosemia

Tx: remove lactose

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175
Q

Profound coagulopathy and normal LFTs

Associated with gram negative sepsis

Can affect the kidneys leading to Fanconi like syndrome with low Ca, Phos, uric acid and Vitamin D leading to rachitic rosary

Can also have low zinc and ALP

A

Tyrosinemia

Tx: NTBC

Do yearly eye exams

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176
Q

Very high NH3 levels without acidosis (metabolic alkalosis)

A

Urea Cycle Defect

OTC def is most common (only one that is X-linked)

Argininosuccinate synthetase is the only one with high citrulline

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177
Q

Present with Reye like syndrome and hypoketotic hypoglycemia

A

Fatty acid oxidation defects

Tx: avoid fasting, IV glucose

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178
Q

Progressive neurologic deficiencies or cardiomyopathy/myopathy

Can have isolated hepatic involvement

Elevated lactate:pyruvate ratio > 20

A

Mitochondrial disorders

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179
Q

Fever, hepatosplenomegaly, significant elevation in LFTs, cytopenias, high TGs, hyperferritinemia, and low fibrinogen?

A

Hemophagocytic Lymphohistiocytosis

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180
Q

Severe coagulpathy, normal LFTs, increased ferritin and AFP?

MRI shows siderosis

Buccal biopsy with iron granules on salivary glands

A

Gestational Alloimmune Liver Disease

Tx: IVIG and plasmapharesis

IVIG in future pregnancies

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181
Q

Histology findings of CMV associated liver disease?

A

large intranuclear inclusion bodies in the bile duct epithelium and occasionally in hepatocytes or kuppfer cells

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182
Q

Histology findings of HSV associated liver disease?

A

necrosis with characteristic intranuclear acidophilic inclusions in hepatocytes and multinucleated giant cells

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183
Q

Hepatomegaly with deafness, cataracts, PDA, purpuric skin lesions and slow growth

A

Rubella

Infants are only affected if mother contracts it during 1st trimester

Treat by vaccinating mother!

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184
Q

What is considered low fecal elastase and how do you treat it?

A

Moderate pancreatic insufficiency is fecal elastase of 100-120. Severe is elastase less than 100

Less than age 2: 2000 - 5000 units of lipase at each feed

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185
Q

How do you prevent PERT related fibrosing colonopathy?

A

Do not exceed pancrealipase dosing greater than 10k units/kg/day

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186
Q

For infants with CF, when should you start PERT?

A

In all infants with 2 CTFR mutations and low lipase. Give with breastmilk.

All infants with fecal elastase < 200

Patients with unequivocal signs of malabsorption

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187
Q

What does the p value indicate?

A

P value indicates the probability of seeing a study’s test statistic at least as pronounced if the study’s null hypothesis were actually true.

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188
Q

What is the cause of environmental enteropathy aka tropical sprue?

A

Recurrent enteric infections

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189
Q

What are the histiologic findings of environmental enteropathy?

A

duodenitis and villous blunting

hard to distinguish from celiac disease

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190
Q

Patient presents with hepatomegaly, hypoglycemia, and failure to thrive. What should you test for?

A

Glycogen Storage Diseases

Results from abnormal degradation of glycogen in the liver or muscle

GSD 1-, 3-, and 4 are known to cause severe liver disease

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191
Q

Ingestion of acidic solutions causes what anatomical obstruction?

A

Pyloric obstruction

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192
Q

If a mother is HBeAg positive at birth, infants have increased risk of developing what?

A

Acute Liver Failure

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193
Q

WHat conditions are Heb B infection associated with

A

Polyarteritis nodosa and gloomerulonephritis

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194
Q

How do you diagnose Hep B infection?

A

Detection of HbsAg

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195
Q

What does a positive HBeAg represent?

A

active viral replication with high infectivity

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196
Q

How do you define chronic Hep B infection?

A

Persistence of HBsAg > 6 months

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197
Q

HBsAg -
Anti-HBc +
Anti-HBs +

A

Immune due to previous infection

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198
Q

HBsAg -
Anti-HBc -
Anti-HBs +

A

Immune due to vaccination

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199
Q

HBsAg +
Anti-HBc -
Anti-HBs -

A

Acutely infected

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200
Q

HBsAg +
Anti-HBc +
IgM anti-HBc -
Anti-HBs -

A

Chronically infected

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201
Q

Persistent infection with

positive HBsAg
negative HBeAg
positive HBeAb

A

Carrier state

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201
Q

Who is at highest risk for developing chronic disease from Hep B infection

A

Infants

90% risk

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201
Q

HBsAg -
Anti-HBc +
Anti-HBs -

A

Resolved or resolving acute infection

Low level chronic infection

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202
Q

Who should be treated for Hep B infection

A

ALT > 1.5x ULN over > 6 months if HBeAg positive or 12 months if HEbAg negative and HBV DNA > 20k

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203
Q

When should you treat with interferon for Hep B and how do you determine positive response?

A

> 12 months of age, Contraindicated in cirrhotics

Positive response: ALT > 2x ULN, low level HBV DNA, active inflammation on biopsy, female sex, younger age

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204
Q

What do the following medications treat?

Lamivudine
Adefovir
Entecavir
Telbivudine
Tenofovir

A

Hep B infection

Nucleastide analogues

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205
Q

What indicates positive treatment response for Hep B infection?

A

nondetectable HBV DNA

seroconversion to HBeAb

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206
Q

How do you treat infants born to a mother who is HBsAg positive?

A

Hep B immunoglobulin and Hep B vaccine within 12 hours of birth

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207
Q

How do you diagnose Hep C?

A

HCV antibody but only after 18 months of age

Active infection: HCV RNA (perform after 2 months of age and before 18 months)

Obtain HCV genotype to determine treatment type

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208
Q

How do you treat Hep C?

A

PEG-IFN-alpha SQ weekly x 48 weeks for genotype 1 and 4

24 weeks for genotype 2 or 3

PLUS oral ribavirin for children > 3 years

48 weeks for any child with HIV too

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209
Q

Portal vein bacteremia from intra-abdominal infections or extensions from contiguous sites like a perforated appendix or IBD

A

Pyogenic abscess

Increased risk with preexisting biliary disease

CT to diagnose

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210
Q

What is the most common bacteria to cause cholangitis and how do you treat it?

A

E coli

Treat with 3rd gen cephalosporin and aminoglycoside (gent, tobramycin, amikacin) for 10-14 days

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211
Q

What are the imaging and histology findings of M Tuberculosis?

A

Imaging: large confluent calcifications in the liver and CBD

Histology: small granulomas in portal areas

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212
Q

What are the histology findings of Mycobacterium avium?

A

Usually associated with HIV

Granulomas containing foamy macrophages

Treat with ethambutol and clarithromycin with or without rifabutin

213
Q

What infection are you at risk for if you have exposure to animals or raw/unpasteurized milk?

A

Brucellosis

214
Q

Entamoeba histolytica

ingestion of cysts

tender hepatomegaly sometimes with bloody stools from “pipe stem” ulcers

A

Amebic liver abscesses (most often in right lobe)

Dx via indirect hemagglutination assays or completement. Also stools are positive for cysts and trophozoites

Gastriculcers look like flasks

Drain and give Flagyl
- drainage is reddish brown sterile fluid - “anchovy paste”

215
Q

Ingestion of ova from infected dogs or livestock that cause cysts on the right lobe of the liver

Increased LFTs and eosinophilia

US shows hydatid sand, septations

A

Echinococcus

Diagnose via serology

Treat with mebendazole or albendazole

DONT DRAIN because it can cause cyst rupture or anaphylaxis

216
Q

Positive ANA and smooth muscle antibody

HLA DR3 and DR4

A

AIH Type 1

Can be weaned off immunosuppression. After 2 years of remission with evidence of both normal liver enzymes, liver function, and histology, patients with AIH type 1 can potentially be weaned off therapy altogether.

Presents more often as advanced cirrhosis

217
Q

Positive LKM or liver cytosol Ab Type 1

HLA DR7 and DR3

A

AIH Type 2

DR7 has worse prognosis

Requires lifelong immunosuppression

more commonly seen in younger children regardless of gender and are more likely to present with acute liver failure

218
Q

What is the histology of AIH?

A

hepatitis with lymphocyte and plasma cell infiltration of the portal tracts with spilling into the liver lobules

Bridging inflammation/necrosis/fibrosis

219
Q

Histology of AIH and SC?

A

hepatitis with lymphocyte and plasma cell infiltration of the portal tracts with spilling into the liver lobules

Bridging inflammation/necrosis/fibrosis

ductular proliferation and onion skin appearance

220
Q

How do you treat AIH?

A

Prednisone daily 2 mg/kg

Budesonide to help offset symptoms of AZA

Ursodiol for overlap SC

AZA

221
Q

How do you initate AZA therapy for AIH?

A

Chect TPMT levels first

If normal, start 1-2 mg/kg

Use metabolites 6 thioguanine and 6 methyl mercaptopurine to adjust dosing and monitor adherence

If AZA doesnt work then consider Sirolimus or Mycophenolate

222
Q

Describe caseating granulomas

A

central necrosis

think infectious etiology

223
Q

Describe noncaseating granulomas

A

no central necrosis

consider noninfectious cause except for Brucella, Hep C

Sarcoidosis is most common cause in US (noncaseating epithelioid granulomas) - has high vitamin D level

224
Q

Describe fibrin-ring granulomas

A

fibrin ring surrounding the epithelioid cells

can be seen in Q fever (coxiella) and Hep C

225
Q

Describe lipogranulomas

A

a central lipid vacuole

associated with mineral oil ingestion

226
Q

Autoimmune disorder with destruction of intrahepatic biliary epithelium and chronic cholestasis

Middle aged women

+ anti-mitochondrial antibodies and increased IgM, increased GGT and ALP

A

Primary biliary cirrhosis

Tx: Ursodiol

227
Q

Thrombotic or nonthrombotic post-sinusoidal hepatic venous outflow obstruction anywhere from the venules to the right atrium

Can be from acquired thrombotic diseases like myeloproliferative disorders, coagulation disorders, or compression of venous system

A

Budd-Chiari Syndrome

Supportive care

228
Q

obstruction of sinosoids of liver

A

Hepatic veno-occlusive disease

Typically seen within 1 month of HSCT induction

Rule out GVHD

High risk of mortality!!!! Start anticoagulant, do not fluid overload, consider steroids and liver transplant

229
Q

What are the histiologic findings association with Hepatic VOD?

A

sinusoidal dilation and congestion, lack of terminal hepatic veins, collagen deposition, and fibrosis

230
Q

Most common vascular tumor in infancy

Caused by abnormal proliferation of endothelial cells during fetal development

Associated hypothyroidism, anemia, low platelets, and consumptive coagulopathy

Normal AFP

A

Infantile Hepatic Hemangioma

Focal lesion: rarely with skin hemagiomas, does not stain positive for GLUT-1, stop growing after birth and resolve by 12-18 months

Multifocal usually have skin lesions and grow before they involute at 1-5 years of age

Treat symptomatic lesions with steroids, propranolol, or vincristine

231
Q

Cystic or multicystic lesion or echogenic mass in the liver that increases in size over the first month of life and then stabilizes

Small risk of malignant change

May have elevated AFP

A

Mesenchymal hamartoma

232
Q

Liver lesions with central stellate scar

A

FNH

233
Q

Liver tumor that occurs in young women on OCPs or associated with glycogen storage disease

Biopsy shows hepatocytes arranged in organized chords

A

Hepatic adenoma

Carries risk of turning into HCC so check AFP

234
Q

Most common pediatric liver tumor

anemia, low platelets, and INCREASED AFP

A

Hepatoblastoma

Rarely presents after age 5

Resect pretext 1/2

chemo and then resect pretext 3

235
Q

Most common hepatic malignancy in adolescence

Can present with precocious puberty because tumor produces beta-HCG

A

HCC

236
Q

What syndromes is hepatoblastoma associated with?

A

FAP

Beckwith-Wiedemann syndrome

Tyrosinemia and Glycogen Storage Diseases

Smoking

237
Q

Define the MELD score

A

For patients age 12-18 years

Bili
INR
Cr

238
Q

Define the PELD score

A

For patients < 12 years of age

Bili
INR
Albumin
Growth failure
Age < 1 year

239
Q

What is the triad of histiologic features for acute rejection of a transplanted liver?

A

Lymphocytic portal inflammation
Cholangitis or bile duct damange
Endothelialitis

240
Q

What are the histiologic features for chronic rejection of a transplanted liver?

A

Biliary epithelial changes affecting most bile ducts

Ductopenia affecting > 50% of bile tracts

Foam cell obliterative therapy

241
Q

Autoimmune inhibitor of neutrophil proteases and elastases

AD disease that causes persistent hyperbilirubinemia

A

A1AT deficiency

Cause by accumulation of A1AT protein in the hepatocyte due to protein misfolding and lack of autophagy leading to cell injury

242
Q

What is the normal and abnormal phenotype for A1AT deficiency?

A

MM is normal, normal levels of A1AT

ZZ and SZ are associated with severe deficiency and liver disease
- can lead to vasculitis, glomerulonephritis, panniculitis, and chronic pancreatitis

243
Q

What are the histology findings of A1AT def?

A

PAS positive
Globules with clear halo surrounding them in zone 1

244
Q

In a cholestatic infant, when should you consider a bile acid synthetic defect?

A

Total serum BAs are low or normal

GGT is normal or minimally elevated (this is usually high in cholestatic infants)

Absence of pruritus

245
Q

Name the diagnosis and the enzyme defect:

Hypergalactosemia
Post-pradial hyperglycemia
Hyperlipidemia
Hypercholesterolemia
Low phos with rickets
Moon facies

A

GSD XI

Defect in GLUT2 transporter

246
Q

Name the diagnosis and the enzyme defect:

Presents at 1-5 years of age

Hepatomegaly, slow growth, motor delays and hypotonia

Increase LFTs, cholesterol and lipids

Hyperketosis in fasting with hypoglycemia

A

GSD IX (alpha)

Its the only one that is X-linked recessive

Defect in liver phosphorylase kinase

247
Q

Where are bile acids synthesized?

A

in hepatocytes from cholesterol

248
Q

What are the 2 primary bile acids that humans make?

A

cholic acid and chenodeoxycholic acid

These are conjugated to glycine and taurine

249
Q

How are secondary bile acids made?

A

Primary bile acids enter the intestine and colon and are deconjugated by intestinal bacteria to become deoxycholic and lithocholic acid

These are highly insoluble and most are excreted in the feces while some are carried back to the liver

250
Q

Name the 5 functions of bile acids

A
  1. eliminate cholesterool from the body
  2. promote the secretion of bile
  3. they are part of the biliary route that excretes toxic substances
  4. the detergent action of bile acids facilitates the absorption of fats and fat soluble vitamins
  5. preserves body mass and helps with glucose metabolism
251
Q

In a cholestatic infant, when should you consider a bile acid synthetic defect?

A

Total serum BAs are low or normal

GGT is normal or minimally elevated (this is usually high in cholestatic infants)

Absence of pruritus

252
Q

If serum bile acids are normal or low, what test should you perform next?

A

FABMS

Fast Atom Bombardment Ionization Mass Spectrometry in the urine

253
Q

What is the most common bile acid synthesis defect?

A

Beta-hydroxy C-27 steroid oxidoreductase/hydrogenase deficiency

leads to progressive jaundice

increased LFTs, NORMAL GGT, increased direct bili, low to normal serum BAs

Hepatomegaly with malabsorption, fat soluble vitamin def and rickets

254
Q

What does the urine bile acid profile show for Beta-hydroxy C-27 steroid oxidoreductase/hydrogenase deficiency?

A

decreased primary bile acids and increased di- and trihydroxy cholenoic acids

treat with cholic acid (Cholbam)

255
Q

Defect results in the inhibition of cholesterol side chain oxidation

Presents with cholestatic liver disease, fat soluble vitamin deficiency, and coagulopathy

Adults have peripheral neuropathy

Urine shows decreased primary bile acids and increased trihydroxycholestanoic and pristanic acids

A

Alpha methylacyl-CoA racemase deficiency

256
Q

What findings do you expect in someome with a bile acid cinjugation defect?

A

Malabsorption and fat soluble vitamin deficiency

Conjugated hyperbilirubinemia, cholestasis, and liver failure

Diagnose by FABMS (complete abscence of glycine and taurine

Treat with primary conjugated bile acids and fat soluble vitamins

257
Q

What are the main carbohydrates?

A

glucose, galactose and fructose

258
Q

What are the main symptoms of inborn errors of carbohydrate metabolism?

A

Hypoglycemia, acidosis, growth failure, and hepatic dysfunction

259
Q

Neonate presents in first days of life after introducing milk with hypoglycemia, vomiting, poor weight gain, diarrhea, hepatomegaly, jaundice, and liver failure

E coli sepsis and cataracts!

A

Galactosemia

Deficiency in galactose-1-phosphate uridyltransferase (GALT)

260
Q

How do you diagnose galactosemia?

A

Newborn screen

Urine reducing substances are positive without glucosuria

Decreased GALT activity in RBCs (but transfusions can make this confusing)

261
Q

How do you treat galactosemia?

A

Eliminate galactose from the diet and switch to soy or hydrolyzed formulas

Older kids should avoid milk containing products, black beans, and garbanzo beans

262
Q

Name the diagnosis:

Rapid progressive cataract in the first week of life
Glucose in urine

A

Galactokinase deficiency

Treat with a lactose free diet

263
Q

Patient with chronic failure to thrive, hepatmegaly, jaundice, steatosis, edema, ascites, renal dysfunction

Labs show low phos, increased LFTs, high bili, coagulopathy, metabolic acidosis

Aldolase B deficiency

A

Hereditary fructose intolerance

264
Q

An autosomal recessive disease that results in impaired gluconeogenesis

Symptoms appear when glycogen stores are low

Babies are hypoglycemic, metabolic acidosis, hyperventilation

A

Fructose 1,6-bisphosphatase deficiency

Diagnose with liver biopsy or genetic testing

Treatment is to avoid long periods of fasting and limit fructose and sucrose

265
Q

Name the diagnosis and the enzyme defect:

Affects liver and kidney

Presents with hypoglycemia and metabolic acidosis post meal
Hepatomegaly with large abdomen and lordosis
Increased TGs and xanthomas
Increased bleeding because of impaired platelet function
Increased Uric acid
Long term complication of hepatic adenomas

A

1a von Gierke Disease

Defect in glucose-6-phosphatase which is the last step in gluconeogenesis

Results in impaired glucose availability during times of fasting

Patients have “doll-like facies”

266
Q

Name the diagnosis and the enzyme defect:

Affects the liver

Neutropenia and recurrent infections

Associated with COLITIS

A

1b von Gierke Disease

Defect in Glucose 6-phosphatase translocase

267
Q

Name the diagnosis and the enzyme defect:

Impaired insulin secretion
Affects the liver

A

1c von Gierke Disease

Defect in Phosphatase Translocase

268
Q

Name the diagnosis and the enzyme defect:

Cardiorespiratory failure and cardiomyopathy

Affects the heart, muscles, and liver

A

II Pompe Disease

Defect in alpha 1-4-glucosidase
(acid maltase)

269
Q

Name the diagnosis and the enzyme defect:

Milder than GSD-1

Tolerate longer fasting periods without hypoglycemia

Hepatomegaly and growth failure with hepatic fibrosis

Increased LFTs

Lactic and uric acid is normal

A

Cori, Forbes Disease

Defect in debranching enzymes

270
Q

Name the diagnosis and the enzyme defect:

Classic progressive liver cirrhosis at 3-15 months old

abdominal distention, heptomegaly early

No hypoglycemia until end stage liver disease

A

Andersen Disease

Defect in Branching enzyme

alpha-1,4-glucan 6 glucotransferase

271
Q

Name the diagnosis and the enzyme defect:

Seen in the mennonite community

microsteatosis, slow growth

hypoglycemia with prolonged fasting

A

Hers Disease

Defect in Liver phosphorylase E

272
Q

Name the diagnosis and the enzyme defect:

Presents at 1-5 years of age

Hepatomegaly, slow growth, motor delays and hypotonia

Increase LFTs, cholesterol and lipids

Hyperketosis in fasting with hypoglycemia

A

GSD IX (alpha)

Its the only one that is X-linked recessive

Defect in liver phosphorylase kinase

273
Q

What is the Rome criteria for IBS?

A

Abdominal pain at least 4 days per month associated with 1 or more of the following:

change in frequency of stool
change in form of stool
pain does not resolve with resolution of constipation
symptoms cannot be explained by other medical conditions

criteria must be fulfilled for 2 months before a diagnosis can be made

Treat with CBT and family therapy

274
Q

What is the Rome criteria for Nonretentive fecal incontinence?

A

At least a 1 month history of the following in a kid greater than 4 years of age:

Defecation into places that are socially not accepted
No evidence of fecal retention
Incontinence cannot be explained by another medical condition

275
Q

What are histologic findings consistent with radiation enteritis?

A

significant eosinophilia and even eosinophilic abscesses

treat with supportive care

276
Q

A patient has an upper GI bleed. Should you use a chemical or immunochemical occult blood test?

A

Chemical - converts heme iron into guiac acid which appears blue on test

Immunochemical does not detect upper GI bleeds because the globulin it binds to can be digested in the GI tract

277
Q

What are the first and second most common causes of exocrine pancreatic insufficiency?

A

Cystic Fibrosis

Schwachmann Diamond Syndrome

278
Q

WHat is a normal sweat chloride test?

A

Less than 60 mmol/L

279
Q

AR condition of SDBS gene

Patient has:
Bone Marrow Failure
Exocrine Pancreatic Insufficiency
Osseous malformations that may include thoracic dystrophy, short stature, and metaphyseal dysplasia

A

Schwachmann Diamond Syndrome

may also include learning disabilities, hepatic or cardiac anomalies, and an increased predisposition to acute myeloid leukemia

Basically, think of FTT with neutropenia

Different from CF because the ductal architecture is still intact

280
Q

What is direct testing for exocrine pancreatic insufficiency?

A

Direct tests include the secretin or cholecystokinin stimulation test

Pancreatic secretions from the duodenum are collected during an upper endoscopy after intravenous administration of one of these agents, followed by direct measurement of enzyme activity

Secretin-enhanced magnetic resonance cholangiopancreatography, which quantifies pancreatic fluid secretion after intravenous administration of secretin

281
Q

What is indirect testing for exocrine pancreatic insufficiency?

A

Fecal fat malabsorption (elastase) in a 72-hour stool collection, which measures the amount of fat content in the stool and the amount of fat ingested during the collection time

Don’t have to discontinue PERT therapy

282
Q

What is a type II error?

A

when the study fails to reject the null hypothesis when there is indeed a difference between the 2 study groups

283
Q

What is a type I error?

A

incorrectly rejects the null hypothesis

284
Q

WHat is the null hypothesis?

A

The null hypothesis (H0) of a study typically states that there is no difference between the 2 study groups, whereas the researchers’ hypothesis hopes to find a difference between the 2 study groups

285
Q

What characterizes Type 1 achalasia?

A

“Absent peristalsis, incomplete relaxation of the LES”

Low amplitude and disorganized peristaltic activity in the esophagus after swallowing, which is insufficient to propel the food bolus and overcome the (usually) high pressure in the LES, which often fails to relax

accompanied by a loss of peristalsis in the distal two-thirds of the esophagus

After any procedure for achalasia, esophageal motor function generally does not normalize completely and many patients experience recurrent or persistent symptoms for which they need a POEM - peroral endoscopic myotomy

286
Q

What characterizes Type 2 achalasia?

A

“Panesophageal pressurization, incomplete relaxation of the LES”

shows simultaneous high pressure throughout the esophagus and compression

type II achalasia has a more favorable rate of response to most therapies, compared with types I and III

287
Q

What characterizes Type 3 achalasia?

A

“Abnormal/spastic contractions, incomplete relaxation of the LES”

Type III has spastic esophageal contractions resulting in ineffective propagation of the food bolus

288
Q

What is a heller myotomy?

A

The Heller procedure (surgical myotomy) involves cutting the LES muscle fibers

Better than dilation and botulinum injection that have high rate of symptom recurrence

289
Q

What acids are found in MCT oil products?

A

Most commercial MCT oil products contain a combination of caprylic (8:0) and capric (10:0) acids, predominantly derived from coconut and palm oil

290
Q

Using MCT oil exclusively puts you at risk for what?

A

Essential fatty acid deficiency because long-chain fatty acids are crucial for other functions besides energy needs, including cellular membrane structure and inflammatory signaling molecules (ie, prostaglandins and leukotrienes)

291
Q

What does a SAAG greater than or equal to 1.1 g/dL indicate?

A

Portal HTN

Hepatobiliary Disorders

Heart failure

292
Q

How do you calculate SAAG?

A

SAAG = (serum albumin) − (albumin level of ascitic fluid)

Ascitic fluid normally contains less than 500 leukocytes/µL, with less than 250 polymorphonuclear neutrophils (PMN)/µL. Ascitic PMN counts greater than 250/µL is a significant predictor of spontaneous bacterial peritonitis

Ascites associated with a low SAAG and a high leukocyte count but low PMN count would be most consistent with either malignancy (such as lymphoma) or tuberculosis

293
Q

Infections come from contaminated pork, milk, or soy

Can mimic appendicitis

Also presents with fever, diarrhea, blood in the stool and can have abscesses or endocarditis, meningitis, osteomyelitis, reactive arthritis

A

Yersinia enterocolitica

gram negative bacillus

tx: ciprofloxacin

294
Q

Infection from contaminated water or food that can cause a prolonged, high volume watery diarrheal illness with abdominal pain and bloating

No blood in the stool

A

Giardia

Tx: supportive care or flagyl

295
Q

Gram-negative bacillus that causes diarrhea

Can cause HUS and bloody diarrhea

Can cause seizures***

A

Shigella

296
Q

What electrolyte and vitamin deficiencies do you expect in refeeding syndrome?

A

While the hallmark feature is hypophosphatemia, other metabolic abnormalities are common including disorders of sodium and fluid balance, changes in glucose, hypokalemia, thiamine deficiency

297
Q

What are manifestations of thiamine deficiency?

A

Headaches, weakness, peripheral neuropathy (known as dry beriberi), confusion, metabolic acidosis, and ataxia

When untreated, congestive heart failure, encephalopathy, and metabolic acidosis may occur (wet beriberi)

Consider giving thiamine before glucose in malnourished hospitalized patients to prevent wernicke’s encephalopathy

298
Q

How does gastrin work?

A

When stimulated by food, gastrin is secreted from antral G cells. Gastrin binds to receptors on the enterochromaffin-like cells in the gastric body and fundus, which then release histamine

Histamine in turn binds to histamine 2 receptors on parietal cells and activates the proton pump (H+/K+-ATPase) which promotes hydrochloric acid secretion

299
Q

Why does long term PPI use lead to hypergastrinemia?

A

because the somatostatin inhibitory feedback loop is inhibited in an alkaline environment

Can lead to fundic gland polyps

300
Q

What is a normal gastrin level?

A

< 100

300
Q

What are the manifestations of Zollinger-Ellison syndrome?

A

It is a gastrin producing tumor

Promote the secretion of huge amounts of gastric acid even in the setting of low gastric pH and may cause reflux symptoms and peptic ulcer disease, which are poorly responsive to PPI therapy

Diarrhea

Gastrinomas may arise from the pancreas (80%) or duodenum (20%).

The serum gastrin level produced by a gastrinoma is usually substantially higher than that occurring during chronic PPI use,

300
Q

Patients with IBD are more likely than their peers to develop…..

A

Gastrointestinal cancer and fail to achieve their adult height based on midparental height estimates

301
Q

Patients with IBD who are treated with thiopurines (AZA, 6-MP) are at greater risk for developing what?

A

Lymphoma

302
Q

What are the dosing guidelines for PERT based on weight in a patient….

<4 year of age?

> 4 year of age?

A

<4 y of age: 1000–2500 lipase units/kg/meal *1/2 for snack

> 4 y of age: 500–2500 lipase units/kg/meal *1/2 for snack

303
Q

What is considered first line in the medical management of increased intracranial pressure in pediatric acute liver failure?

A

Mannitol

304
Q

Name the medication:

A prostaglandin E1 derivative that acts as a chloride channel protein-2 activator (CIC-2) to stimulate gastrointestinal fluid secretion, leading to the softening of stools and thereby facilitating bowel movements

A

Lubiprostone

not yet approved by the Food and Drug Administration for children <18 years of age

305
Q

Who should receive anticoagulation in the setting of IBD?

A

Anticoagulation with low-molecular-weight heparin, low-dose unfractionated heparin or fondaparinux is recommended for inflammatory bowel disease hospitalizations in all patients 18 years and older, and in pediatric inflammatory bowel disease hospitalizations if there is a personal or family history of thromboembolism.

306
Q

What are the manometry findings associated with achalasia?

A

abnormal peristalsis and incomplete relaxation of the LES

307
Q

What causes achalasia?

A

Achalasia is caused by an imbalance of excitatory and inhibitory neurons in the esophagus

loss of inhibitory fibers in the myenteric plexus causes abnormalities in peristalsis and failure of the LES to relax

308
Q

What is the inclusion criteria for pediatric bariatric surgery?

A

Bariatric surgery is indicated in adolescents with extreme obesity: body mass index greater than 40 or body mass index greater than 35 plus comorbidities

Tanner 4/5

Age > 10 years

Compliance with lifestyle modification

Stable psychosocial situation

Experienced multidisciplinary team

309
Q

What is exclusion criteria for pediatric bariatric surgery?

A

Nonadherence to diet/activity

Pregnancy (or anticipated within 1-2 years)

Unresolved substance abuse

Untreated psychiatric disorder

310
Q

HBsAg positive patients are at risk for?

A

HBsAg‐positive patients are at risk for elevation in hepatitis C virus DNA and alanine aminotransferase during hepatitis C treatment with direct oral-acting therapy

Monitoring of hepatitis B virus DNA levels every 4 to 8 weeks during treatment and for 3 months after treatment is indicated

311
Q

What are side effects of thiopurine metabolites?

A

Thiopurine metabolites can be associated with both bone marrow and hepatic toxicities

Azathioprine and 6-mercaptopurine undergo a complex metabolic pathway with potential for drug-drug interactions

312
Q

How do you test for microvillous inclusion disease?

A

Histologic examination of the small intestine shows villous blunting but with notably absent inflammation, which distinguishes MVID from autoimmune enteropathy (AE)

Apoptosis from increased cell turnover may be present

Immunohistochemical staining to highlight the location of epithelial membrane components can be performed with CD-10, an antigen expressed in the brush border, or villin, a component of the microvillus core

The staining pattern shows disrupted surface epithelium as well as cytoplasmic inclusions that contain epithelial components

313
Q

Mutation in myosin 5b

A

Microvillus inclusion disease

314
Q

Patient presents with diarrhea and dehydration in the first few days of life

Histologic examination of the small bowel may also show villous atrophy with absent or only mild inflammation

The surface epithelial cells are often disorganized and closely packed together, giving the plasma membrane a rounded appearance (tear drop)

A

Tufting enteropathy (TE)

Mutation in EpCam expression

315
Q

Most common cause of congenital diarrhea

Develops in first month after birth

Diarrhea persists even when holding feeds

Small intestine biopsies show severe total villous atrophy with significant inflammation, with neutrophils, lymphocytes, and plasma cells

A

Autoimmune enteropathy

316
Q

How do you define TPN cholestasis?

A

Total parenteral nutrition–associated cholestasis is typically defined as a conjugated bilirubin level above 2.0 mg/dL (34.2 µmol/L), or more than 20% of the total bilirubin in patients receiving long-term parenteral nutrition

Can be caused by limited resorption of bile acids in the distal ileum for patients that are short gut

317
Q

What are the 3 reasons why lipid formulations from soybean lead to cholestasis?

A
  1. Soybean oil has a high ratio of linoleic acid (omega-6) to linolenic acid (omega-3). Both fatty acids are essential to avoid essential fatty acid deficiency, a high ratio of omega-6 to omega-3 fatty acids is linked to inflammation

Omega-6 fatty acids are substrates for the formation of several proinflammatory prostaglandins, causing a proinflammatory state

  1. Plant-based lipid solutions contain high levels of phytosterols, the plant analogue to animal cholesterol (absorption is limited in the intestine but higher when give IV)
  2. Lack Vitamin E which protects against oxidative damage
318
Q

What does SMOF stand for?

A

Soybean oil, MCT, olive, and fish oil

Decreased omega-6 to omega-3 ratios

Increased Vitamin E content

Less or no phytosterols

319
Q

What are target levels for anti-TNF biologic therapy for IBD patients?

A

The trough concentration for luminal disease during maintenance therapy should be greater than 5 μg/mL for infliximab and greater than 7.5 μg/mL for adalimumab

For complex perianal disease, then greater than 10

320
Q

WHat are the guidelines for surveillance in a patient with an adenomatous polyposis coli mutation (APC) and a family history of FAP?

A

Right upper quadrant ultrasonography and have serum α-fetoprotein (AFP) levels checked every 6 months from infancy to 5 to 10 years of age given increased risk for hepatoblastoma

An annual colonoscopy starting at 10 to 12 years of age

A thyroid examination and thyroid ultrasound annually starting in the late teenage years

321
Q

What are the histiologic findings on rectal biopsy for patients with Hirschsprung’s Disease?

A

absence of ganglion cells in the rectal mucosa and submucosa

presence of hypertrophic nerve fibers

increased acetylcholinesterase activity or staining in the muscularis mucosae

decreased or absent calretinin-immunoreactive fibers in the lamina propria***

322
Q

Mutation in the ATP7B gene

A

Wilson’s disease that results in defective copper trafficking out of hepatocytes

323
Q

What is considered an abnormal urine copper and ceruloplasmin when evaluating for wilson’s disease?

A

A 24-hour urinary copper >40 µg/24 h is considered abnormal, and >100 µg/24 h is highly suspicious for WD

Total serum copper is also usually decreased

Serum ceruloplasmin is typically <20 mg/dL in WD due to impaired synthesis

324
Q

What is a potential complication of using multiple hyperosmolar enemas?

A

Hyperosmolar enemas are hypertonic solutions that contain a large amount of phosphate

By retaining the majority of the contents of 3 sodium phosphate enemas, the child described in this vignette developed hyperphosphatemia and resultant hypocalcemia, which resulted in QT prolongation

Phosphate enema overuse can also cause volume depletion, acute renal failure, hypernatremia, and high anion-gap metabolic acidosis.

325
Q

What are the histiologic findings associated with DILI?

A

Microvesicular steatosis due to disruption of mitochondrial β-oxidation of lipids

326
Q

How do you treat DIOS? (Distal intestinal obstruction syndrome)

A

Distal intestinal obstruction syndrome can be successfully treated with an oral (for more proximal or partial obstruction) or rectal hyperosmolar solution

327
Q

What is an important etiology for advanced liver disease in CF?

A

Non-cirrhotic portal hypertension caused by obliterative venopathy

decreased luminal diameter of the portal vein from smooth muscle hyperplasia

Patients may develop bridging fibrosis in the absence of cirrhosis which results in the presence of nodular regenerative hyperplasia

The pathophysiology of vascular damage is thought to be related to early severe or recurrent pulmonary infections or non-pulmonary infections resulting in the formation of small clots within small hepatic veins and eventually leading to significant vascular damage

328
Q

Histology findings of autoimmune enteropathy?

A

villus atrophy with increased lamina propria
plasma cells without increase in intraepithelial lymphocytes

329
Q

Histology findings of microvillus inclusion disease?

A

moderate-to-severe villous blunting
without increase in lamina propria plasma cells or intraepithelial
lymphocytes

Electron microscopy pathognomonic: markedly ↓ surface microvilli
that are shortened and disorganized and intracytoplasmic vacuoles,
detected with periodic acid-Schiff stain

330
Q

Histology findings of tufting enteropathy?

A

variable villous abnormalities and distinctive
surface epithelial changes consisting of epithelial crowding,
disorganization, and focal tufting

331
Q

Histology findings of ulcerative colitis?

A

crypt distortion with villous surface, goblet cell
depletion, and prominent crypt abscesses. Diffuse, predominantly
plasma cell infiltrate of lamina propria.

332
Q

Which children require antibiotic prophylaxis before endoscopy?

A

patients with established enterococcal GI tract
infections in which antibiotic prophylaxis may be considered for those
with highest risk cardiac conditions with adverse outcomes from
IE, including prosthetic valves, previous IE, cardiac transplant and
subsequent valvulopathy, unrepaired cyanotic congenital heart disease
(CHD), and repaired CHD with prosthetic material

333
Q

What does reticulin staining show?

A

necrosis and regeneration

Type III collagen

334
Q

What does PAS stain show?

A

Bile duct injury (basement
membranes), necrosis
(lipofuscin-filled macrophages),
and α1antitrypsin globules

335
Q

Histologic findings in neonatal hepatitis?

A

Little or no bile duct alteration

Liver parenchyma abnormalities include giant cell transformation,
ballooning/degeneration, neutrophil infiltration, intralobular
inflammation, and Kupffer cell hyperplasia

336
Q

Histologic findings in autoimmune hepatitis?

A

Dense mononuclear and plasma cell infiltration of the portal
areas, which expands into the liver lobule

destruction of the
hepatocytes at the periphery of the lobule, with erosion to the
limiting plate (interface hepatitis) and hepatic regeneration with
rosette formation

337
Q

Histologic findings in DILI?

A

Prominence of neutrophils and eosinophils among inflammatory cells

Zonal necrosis is characteristic of compounds with predictable,
dose-dependent, intrinsic toxicity, such as halothane (zone 3), carbon tetrachloride (zone 3), and acetaminophen (zone 3)

Focal concentric edema and fibrosis (onion skinning) around
interlobular bile ducts

338
Q

Histologic findings of Reye Syndrome?

A

Microvesicular steatosis in the absence of hepatic inflammation
or necrosis and characteristic swelling and pleomorphism of
mitochondria under EM

339
Q

Histologic findings of A1AT def?

A

PAS-positive, diastase-resistant globules in the endoplasmic
reticulum of hepatocytes

Variable degree of hepatocellular necrosis, inflammatory cell infiltration, periportal fibrosis, or
cirrhosis may be present.

340
Q

What is the histologic triad of posttransplant rejection?

A

portal tract inflammation

portal venule endothelialitis

inflammatory medicated bile duct injury

341
Q

Histology of post transplant chronic rejection?

A

progressive duct loss and a lipid-rich vasculopathy

May present with central necrosis (zone 3) and central
lymphocytic infiltration as central venulitis or lymphocytic
infiltration in bile ducts or portal vein as portal venulitis

Vascular involvement means more severe rejection

342
Q

What does a rhodanine stain detect?

A

chronic cholestasis

343
Q

What does a victoria blue stain or orcein stain detect?

A

HBV
Chronic cholestasis
Vessels and Fibrosis

344
Q

What is the strobel formula?

A

Measured distance for catheter placement in the esophagus above the lower esophageal sphinter

0.252 x body length (cm) + 5) = length of infant esophagus

345
Q

What are non hepatic causes of high Alk Phos?

A

Transient hyperphosphatemia of infancy/childhood - can be triggered by a viral illness

Pregnancy

Chronic renal failure

Untreated celiac

High bone turnover

Malignant tumors

346
Q

What causes low Alk Phos?

A

Wilson’s Disease

Zinc Def

OCP use

Low Phos

347
Q

What does reducing substances measure and what is considered an abnormal result?

A

Carb malabsorption

Suspicious 0.25-0.5 g/dL
Abnormal >0.5 g/dL

348
Q

What does fecal pH measure and what is considered an abnormal result?

A

<5.5 is suggestive of carb malabsorption or infection

Normal is 7.0-7.5

349
Q

Define osmostic diarrhea

A

osmotic gap > 100

caused by malabsorption

improves with fasting

350
Q

Define secretory diarrhea

A

osmotic gap < 50

Significant increase in stool volume

caused by abnormal fluid/electrolyte transportation due to decreased absorption or increased secretion

Does not improve with fasting

351
Q

What manometric finding raises suspicion for hirscspring disease?

A

abnormal RAIR (rectoanal inhibitory reflex)

The RAIR study looks at internal anal sphincter relaxation in response to rectal distention. When ganglion cells are present, there is a relaxation of the internal sphincter with balloon insufflation and the depth of the relaxation increases with increasing balloon volumes.

352
Q

What is DRESS?

A

The constellation of fever, rash, lymphadenopathy, facial edema, eosinophilia, and hepatitis after the commencement of a drug is consistent with the development of drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome

most likely a drug-related immune reaction that triggers reactivation of host viruses, typically human herpesvirus (HHV) 6 or 7, Epstein-Barr virus (EBV), and cytomegalovirus (CMV)

Viral reactivation, in turn, stimulates a T-cell response with release of cytokines such as interleukin 5 and tumor necrosis factor α, leading to eosinophilia and inflammation with resulting illness and organ injury.

anticonvulsants are most common culprit

Don’t forget the 2-6 week latency period

353
Q

What component of the immune system is a key driver in pathogenesis of NEC?

A

Toll-like 4 receptors (TLR4)

Breastmilk inhibits this signaling

354
Q

Serological changes associated with being a healthy carrier of the hepatitis B virus are:

A

HBsAg positive, HBV DNA positive by hybridization assay, HBeAg negative, with only
slightly elevated serum aminotransferases

During the immune response or “immune clearance” phase, these patients developed antibodies against the virus (anti-HBe positive) as well as a clinical picture of hepatitis (elevated transaminases)

Their immune response is effective but not complete, rendering them carriers with evidence of the virus still present (HBsAg positive, HBV DNA hybridization positive) but also evidence of a successful response (anti-HBe positive causing HBeAg negativity)

355
Q

What are the serologic changes of a person who was infected with Hep B and mounted a complete immune response?

A

Carriers may also have slightly elevated aminotransferases. Had their immune response been complete, the patients would be cured of the disease and be anti- HBs positive, HBsAg negative, anti-HBe positive, HBeAg negative, and HBV DNA negative.

356
Q

How do you treat Hep C genotype 1?

A

interferon, ribivarin, and a protease inhibitor

357
Q

How do you treat Hep C genotype 2, 3, and 4 and what are the potential side effects of treatment?

A

Interferon and Ribavarin

Anemia usually appears in the first 12 weeks, caused by ribivarin-induced hemolysis (ribivarin is concentrated in erythrocytes leading to oxidative damage) and interferon-related bone marrow suppression to blunt a compensatory response

Neutropenia and thrombocytopenia occur soon after treatment initiation and are due to interferon-related bone marrow suppression

Ribivarin dose reduction would treat the anemia, whereas Interferon dose reduction would treat the thrombocytopenia.

Erythropoietin is another medication that has been shown to improve the anemia, possibly without needing to reduce the ribivarin dose.

358
Q

How do you treat Hep B in children?

A

Interferon and the antiviral lamivudine are used to treat HBV infection in children

Interferon is dosed for 16 weeks. Can cause a rise in LFTs by killing infected hepatocytes so a rise in AST/ALT could mean the medication is working

Lamivudine is taken indefinitely but can induce viral resistance

359
Q

What are the epidemiologic features of inflammatory bowel disease?

A

the prevalence is approximately 100 cases per 100,000 general population

360
Q

What urinary tract complications may occur as a consequence of Crohn’s disease?

A

transmural inflammation can affect the underlying ureters, causing occlusion usually on the right side and hydronephrosis

Inflammation can also create fistulas between inflamed bowel and the bladder, promoting cystitis and urinary tract infections

associated with calcium oxalate and uric acid renal stones

361
Q

Protein calorie malnutrition WITH edema

A

Kwashiorkor

muscle atrophy and increased body fat secondary to poor protein intake in the setting of adequate energy intake

Normal weight to height for age, anasarca, flaking of the skin, fatty liver

Can have “flag sign” when streaks of normal hair color reappear with normal protein intake

362
Q

Protein calorie malnutrition without edema

A

Marasmus

Muscle wasting and depleted fat stores secondary to inadequate intake of all nutrients

Doesn’t always have low albumin levels

363
Q

Important for maintanence of epithelial cell function

Night blindness
Bitot spots (keratinization of the cornea)
Xerophthalmia (dry eyes)
Corneal opacities
Growth failure
Increased susceptibility to infection
Increased risk of severe measles
Desquamating skin lesions

What are the signs of toxicity?

A

Vitamin A deficiency

Tox: alopecia, ataxia, pseudotumor and HSM and turning orange like carrots

364
Q

Name the vitamin and toxicity:

Function: cell membrane antioxidant, free radical scavenger, inhibits polyunsaturated fatty acid oxidation

Def: increased coagulation and abnormal bone formation, neurologic and neuromuscular findings including opthalmoplegia

A

Vitamin E

Tox: impaired neutrophil function, coagulopathy, low platelets, cerebral hemorrhage

365
Q

Define wet beriberi

A

From thiamine deficiency

dilated cardiomyopathy, lethargy, lactic acidosis, nystagmus, wernicke enceophalopathy

366
Q

Define dry beriberi

A

From thiamine deficiency

karsakoff’s psychosis, ophthalmoplegia, and nystagmus

367
Q

Signs of B2 deficiency

A

Def: stomatitis, glossitis, dermatitis, slow growth

368
Q

Vitamin deficiency that causes dermatitis, diarrhea, dementia, and death (pellagra)

A

Niacin

Occurs where corn is a staple food

369
Q

Vitamin required for Hgb synthesis

Def: associated with use of isoniazid and results in dermatitis, glossitis, depression, seizures, confusion, anemia

A

Pyridoxine (B6)

370
Q

Deficiency of this vitamin increases risk of neural tube defects

A

Folic acid

371
Q

How do you define essential fatty acid deficiency?

A

Deficiency of alpha-linoleic (omega-6) and alpha-linolenic (omega-3) acid which cannot be synthesized in humans

Increased T/T ratio (mild > 0.05, mod > 0.2, severe > 0.4)

Can result in hair loss, blood disorders, poor growth, poor wound healing, xerosis, increased risk of infection

372
Q

What is the first manifestation of vitamin e deficiency?

A

Hyporeflexia

373
Q

What gene mutation causes hereditary hemochromatosis?

A

HFE gene

HFE is a transmembrane protein expressed in intestinal crypt cells and liver cells

In crypts, it binds transferrin receptors and promotes uptake of iron from circulation

In liver cells, it increases expression of liver hepcidin

374
Q

What mutation causes Wilson’s Disease?

A

Mutation in the copper=transporting ATPase gene ATP7B

This gene coordinates transport of copper from the cytoplasm through the trans-golgi network to vesicles, eventually leading to bile canaliculi

Alsp promotes binding of copper with apoceruloplasmin to form ceruloplasmin which gets secreted into the blood stream

Without this gene, copper doesnt get secreted into the bile or the bloodstream which then leads to damage in the liver

375
Q

What liver disease results in increased risk of idiopathic pulmonary fibrosis?

A

Hep C

376
Q

How would you describe the regenerative response of residual liver after a segmental resection?

A

1-2 rounds of replication is sufficient to double liver mass

377
Q

How do antifungals, calcium channel blockers, and macrolides affect tracrolimus levels?

A

They inhibit the P450 system, thereby increasing tacro levels

378
Q

How do anticonvulsants and anti-TB agents affect tacrolimus levels?

A

They induce the P450 system, thereby decreasing tacro levels

379
Q

What segments of the liver constitute the left lateral segment and the right segment?

A

Left lateral: segment 2, 3 (25% of total volume), includes left heptic vein, left branch of portal vein, and left branch of hepatic artery

Right segment: 1, 4, 8 (includes the vena cava, right branch of the hepatic artery, and portal vein)

380
Q

When is the pancreas formed?

A

At 4-5 weeks gestation from the posterior foregut

381
Q

What composes the dorsal bud of the pancreas?

A

superior pancreatic head, body, and tail

382
Q

What composes the central bud of the pancreas?

A

inferior pancreatic head and uncinate process, proximal pancreatic duct

383
Q

What causes an annular pancreas?

A

Failure of proper rotation of the central bud

384
Q

What causes a pancreas divisum?

A

Failure of fusing of the pancreatic ducts which occurs at 7 weeks gestation

385
Q

What cells make up the endocrine cells of the pancreas?

A

Reside in the islet of langerhans

A cells: glucagon
B cells: insulin
D cells: somatostatin
F cells: pancreatic polypeptide

385
Q

What two cells make up the exocrine cells of the pancreas?

A

Acinar cells (82% of the pancreatic volume) and ductal cells

386
Q

What do acinar and ductal cells in the pancreas do?

A

Acinar cells synthesize, store, and release digestive enzymes which are activated in the intestine by trypsin and enterokinase

Ductal cells secrete 1-2 L of neutral juice into the intestines

387
Q

WHat is a better test to perform in mild exocrine insufficiency and should be considered in short gut kids with diarrhea and in infants?

A

72 hour fecal fat collection

388
Q

Exocrine pancreatic insufficiency, sideroblastic anemia and bone marrow vacuolization of cells

A

Pearson bone marrow pancreas syndrome

389
Q

exocrine pancreatic insufficiency, FTT, deafness, hypothyroidism, microcephaly, abnormal hair patter, nasal cartilage hypoplasia, small or absent permanent teeth

A

Johnson-Blizzard Syndrome

UBR1 gene mutation
near complete absence of acinar cells that are replaced with fat and connective tissues

Differentiate from Schwachmann Diamond because this does not have skeletal and bone marrow abnormalities

390
Q

What is an infectious cause of exocrine pancreatic insufficiency?

A

Congenital Rubella

Can cause loss of exocrine pancreatic cells

391
Q

What are the signs of a complete pancreatic divisum?

A

The dorsal pancreas (head, body and tail) drains through the minor papilla

Can present with intermittent abdominal pain and mild to severe recurrent episodes of pancreatitis due to high volume of pancreatic secretions flowing through the smaller papilla causing activated pancreatic enzymes to inflame the papilla leading to stenosis and pancreatitis

392
Q

What are the signs of an incomplete pancreatic divisum?

A

small ductal branch connects the ventral and dorsal ducts

393
Q

Define an annular pancreas. What conditions is it associated with?

A

The head of the pancreas partially or completely encircles the second part of the duodenum

Associated with Tris21, Meckel’s diverticulum, polyhydramnios, TEF, esophageal or duodenal atresia, congenital heart disease

394
Q

How does an annular pancreas present and how do you confirm the diagnosis?

A

Infants/children: neonatal small bowel obstruction, bilious emesis, feeding intolerance

Adults: postprandial fullness, acute/chronic pancreatitis

Dx: KUB can show double bubble sign in infants, CT/MRI/Upper GI shows duodenal narrowing

395
Q

How do you treat an annular pancreas?

A

Duodenal bypass:
- gastro-jejunum or duodeno-jejunum anastamosis

396
Q

When do you see these complications of pancreatitis:

peripancreatic fluid collection vs pseudocyst

A

Peripancreatic fluid collection is within 4 weeks of onset of pancreatitis

Pseudocyst is > 4 weeks with a thin surrounding wall and is associated with trauma (can be managed conservatively unless causing obstruction or prolonged symptoms)

397
Q

AD disease that results in increased activation (or prevents inactivation) of trypsin leading to autodigestion

Strong family history of pancreatitis in multiple family members

Presents age 10-14

A

PRSS1 gene mutation

High risk for Type IIIc diabetes and pancreatic adenocarcinoma

398
Q

What is the finding on newborn screen that leads to diagnosis of CF?

A

high blood spot values of immunoreactive trypsinogen

399
Q

What is the Schilling test and its steps?

A

n patients with B12 deficiency, the Schilling test is used to determine which step in the absorption process is impaired

Step 1 involves feeding radiolabeled B12 and measuring the amount excreted in the urine, as an indicator of how much is absorbed. Unlabeled B12 is injected concurrently that saturates tissue B12 receptors, ensuring that labeled B12 passes to the urine

Step 2-4 then repeat the first step with various adjuncts: step 2 adds intrinsic factor (if test becomes normal, then assume IF deficiency or pernicious anemia), step 3 adds antibiotic (if test becomes normal, then assume small bowel overgrowth), and step 4 adds pancreatic enzymes (if test becomes normal, then assume pancreatic insufficiency).

400
Q

Why is folate supplementation required for the following disorders?

Anticonvulsant therapy
Celiac Sprue
Sulfasalazine therapy
Methotrexate

A

Folate is absorbed by brush border enzymes

Anticonvulsant therapy
Celiac Sprue
- impairs brush border enzyme activity

Sulfasalazine therapy
- interferes with absorption

Methotrexate
- prevents reduction of folate that enters cells into its active form by inhibiting DHFR

Pancreatic enzymes aren’t involved in folate absorption

Sulfasalazine therapy
Methotrexate

401
Q

What inhibits brush border saccharidase activity?

A

Bacterial overgrowth as they create proteases that destroy saccharidases

402
Q

What diseases are associated with Hep C infection?

A

Cryoglobulinemia (when Hep C complexes form in the blood)

Porphyria cutanea tarda (UROD gene is impaired due to liver dysfunction and porphyrins collect in the skin)

Membranoproliferative glomerulonephritis (vasculitis induced by infection)

Diabetes - 4 x higher risk with Hep C

403
Q

Disorder of acid hypersecretion caused by mostly pancreatic tumors

Results in increased secretion of gastrin

A

Zollinger-Ellison syndrome

Results in increased gastric secretions and diarrhea secondary to increased osmotic load, mucosal damage, and pancreatic lipase inactivation

Most changes are in the small intestine

404
Q

What causes gastroparesis in diabetics?

A

Neuropathy of the vagal nerve

Poor vagal input reduces acid secretion and leads to less frequent antral contractions and increased pyloric tone

Hyerglycemic episodes can worsen gastroparesis

405
Q

What are side effects of chronic prostaglandin use?

A

Antral hyperplasia and gastric outlet obstruction secondary to mucosal enlargement

Can diagnose via endoscopy

406
Q

How does H pylori survive in the acidic environment of the stomach?

A

Urease, which hydrolyzes urea into CO2 and ammonia

The ammonia buffers the stomach

407
Q

What is the difference between adult and pediatric enteral formulas?

A

Pediatric formulas have less protein per volume because they rely on more fat content for nutrition

408
Q

An infant has a viral gastroenteritis. Once resolved, mother reintroduces formula and baby foods but the patient develops persistent diarrhea, flatulence, and pain. Why?

A

Secondary acquired lactose intolerance can occur after a viral infection because the intestinal brush border and its disaccharidases are destroyed

As a result, lactose will not be absorbed in the small intestine, and will pass to the colon where gut bacteria will metabolize it into gas and osmotically active substances

Lactase is the last disaccharidase to return to normal function after injury so lactose intolerance can last for months after initial insult

409
Q

Which amino acid needs to be added to soy milk despite having a normal amount in cow’s milk?

A

Methionine

Helps make albumin

Lack of supplementation can lead to edema

410
Q

Which drugs cause jaundice, itching, increased ALP, and histologic evidence that resembles obstructive jaundice?

A

EES, Nitrofurantoin, Augmentin, Chlorpromazine

411
Q

WHat is the most common cause of jaundice in pregnancy?

A

Viral infection with HSV and Hep E most concerning for the developing fetus

Intrahepatic cholestasis of pregnancy has more itching than jaundice

One algorithm is as follows: 1) rule out viral hepatitis; then 2) if ALT>1000, consider medication toxicity (Tylenol); 3) if ALT<1000 and with renal failure or DIC, consider acute fatty liver of pregnancy; 4) if ALT<1000 with RUQ pain, consider stones; and 5) otherwise if ALT<1000 consider hyperemesis gravidarum or other drugs.

412
Q

A patient with HIV presents with elevated LFTs and a liver biopsy that shows blood-filled cysts. What is the etiology?

A

Bartonella (Rochalimaea) Henslae in the setting of HIV with CD4<100

Peliosis refers to blood filled cavities in the liver or spleen

In patients without HIV, peliosis can be seen with anabolic steroid use, leukemia/lymphoma

413
Q

What medications can cause microvesicular steatosis?

A

Tetracycline, ASA (Reye’s Syndrome), AZT, Alcohol, and Valproic Acid

414
Q

What is the mechanism of action of hereditary hemochromatosis syndrome?

A

Most commonly caused by the HFE (high Fe) gene.

The gene controls liver hepcidin expression. Hepcidin is a hormone which negatively regulates ferroportin (which carries iron to the liver).

With mutant HFE, then, hepcidin levels are low. As a result, ferroportin activity is increased, and more iron stored in the enterocyte is allowed to enter the systemic circulation, even when excess iron is already present. The iron becomes deposited in various end organs, where it causes a series of systemic complications.

415
Q

What are the manifestations of copper deficiency?

A

Iron anemia
Microcytic anemia

Copper is needed for enzymes involved in iron absorption

416
Q

What are the manifestations of carnitine deficiency?

A

Carnitine is needed to shuttle long chain fatty acids into the mitochondria, and without it myopathy (including cardiomyopathy) develops

417
Q

How do you define a standard deviation?

A

A standardized measure of variation used to compare dispersion for variables with different units
of measurement.

418
Q

Define Pearson’s correlation coefficient

A

The Pearson’s correlation coefficient r measures how well two continuous variables vary with one another

-1 reflects perfect negative correlation, +1 perfect positive correlation, and 0 no correlation.

The square of the correlation (coefficient of determination) measures the amount of variance in one group that can be associated with the amount of variance in the other group

419
Q

What is a linear regression model?

A

A linear regression line models the relationship between two variables using a line

420
Q

Define sensitivity

A

Sensitivity is the probability of a test being positive if the disease is truly present

421
Q

Define specificity

A

specificity is the probability of the test being negative if the disease is truly absent

Sensitivity and specificity are not dependent on prevalence

422
Q

Which pathway demonstrates the reaction of the internal anal sphincter when a rectal balloon is inflated?

A

Interstitial Cells of Cajal, the pacemaker cells throughout the gut stimulating slow waves of peristalsis, are located in the IAS and may be involved in IAS relaxation

When the rectum is distended, the IAS relaxes to allow stools to descend and the EAS contracts to prevent defecation

The IAS relaxation is accomplished by non-adrenergic, non- cholinergic (NANC) nerves that release nitric oxide (NO), vasoactive intestinal peptide (VIP), and perhaps carbon monoxide.

423
Q

What causes Hirschsprung’s Disease?

A

Hirschsprung’s disease is caused by lack of ganglion cells in the mucosal (Meissner’s) and myenteric (Auerbach’s) plexuses of the distal colon

424
Q

What is the classic manometry finding of Hirschsprung’s disease?

A

Absent IAS relaxation when the rectum is distended

The relaxation normally is mediated by nitric oxide, suggesting that nitric oxide-generating neurons are missing or defective in Hirschprung’s disease

425
Q

What is the most common complication of TIPS procedure?

A

Encephalopathy, as the procedure allows blood from the gut to bypass the liver filter and enter the systemic circulation directly

The second most common is shunt occlusion

426
Q

What is the most common cause of GI bleeding in HIV patients?

A

Kaposi’s Sarcoma

Vascular tumor caused by HHV-8 and appears as hemorrhagic nodules on colonoscopy

427
Q

What organisms cause microsporidosis in AIDS patients?

A

Encephalitozoon intestinalis

Enterocytozoon bieneusi

Tx: albendazole

428
Q

What is Wolman Disease?

A

Caused by a defect in lysosomal acid lipase

As a result, lysozymes cannot hydrolyze triglycerides and cholesterol so they accumulate inside cells leading to bowel wall thickening, diarrhea, malnutrition, and hepatomegaly

Liver appears yellow/orange and greasy with extensive fibrosis

ADRENAL CALCIFICATIONS

429
Q

Diarrhea, fever, vomiting and bloody stools a year after repair of Hirschsprungs

A

Hirschsprung-associated enterocolitis (HAEC)

Imaging shows air-filled loops of bowel with no air in the rectosigmoid colon (“cut-off sign”)

The pathogenesis is thought to be related to intestinal stasis and bowel overgrowth proximal to the agangiolic segment or proximal to an anastomotic stricture. Bacteria invade the intestinal wall, leading to disease

430
Q

Lipids trapped in enterocytes leading to fat malabsorption, diarrhea, and severe malnutrition

A

Abetalipoproteinemia
- triglyceride transport protein doesn’t work

By 2-6 years, they show severe Vitamin E def leading to retinopathy and spinocellular degeneration

Treat with MCT and Vitamin E

431
Q

What elements need to be replaced when a patient…

…has a colon?

…does not have a colon?

…does not have a terminal ileum?

A

K and HC03-

Zn, Mag, Na

B12 and Fat Soluble Vitamins

432
Q

100-1000 polyps

Congenital hypertrophy of retinal pigment epithelium

Osteomas

Nasopharyngeal angiofibroma

Lipomas, fibromas, dental abnormalities

A

Familial Adenomatous Polyposis (FAP)

433
Q

What gene predisposes you to FAP?

A

APC gene

434
Q

What is the pathology of polyps in FAP?

A

Adenomatous (tubular, tubulovillous, and villous)

100% lifetime risk of colon cancer

15-20% lifetime risk of desmoid tumors

435
Q

What is surveillance management of FAP?

A

Annual colonoscopy starting at age 10 years

EGD every 3-4 years or annually if polyps are detected

Annual AFP and liver US from infancy to 7 years of age

436
Q

How is attenuated FAP different?

A

< 100 colonic polyps

Fundic gland polyps and duodenal polyps are more prominent

Late onset of colon cancer

Endoscopic exams begin later at 18-20 years of age in patients with family history of atypical polyposis syndrome

437
Q

Define Gardner’s Syndrome

A

variant of FAP with osteomas and soft tissue tumors (desmoid and epidermoid cysts)

438
Q

Define Turcot Syndrome

A

Variant of FAP with CNS tumors

439
Q

Age 2-12 years with rectal bleeding/prolapse, abdominal pain, intussusception, and >3 -5 polyps from stomach to colon

A

Juvenile Polyposis Syndrome (JPS)

At risk for colon, small bowel, stomach, and pancreatic cancer

440
Q

What gene causes Juvenile Polyposis Syndrome?

A

SMAD4

441
Q

What is the management and surveillance of JPS?

A

EGD, Capsule, Colon every 2 years

If dysplasia is present then go to surgery

442
Q

Mucocutaneous pigment that fade with puberty

Presents before age 20

GI polyps in the small bowel

Abdominal pain due to obstruction or intussusception

A

Puetz-Jeghers Syndrome

STK11 gene

443
Q

How do you diagnose Puetz-Jeghers Syndrome?

A

Hamartomatous polyps and >2 of the following:

Family History

Mucocutaneous pigementation

Small bowel polyposis

444
Q

What is the surveillance and management of Puetz-Jeghers Syndrome?

A

EGD, Capsule, Colon every 2 years from age 8 or whenever symptoms occur

445
Q

Hamartomatous neoplasms of the skin, mucosa, GI tract, eyes, CNS, GU tract

90% have skin manifestations and 60% have thyroid involvement

GI polyps

Defect in PTEN gene

A

Cowden Syndrome aka Multiple Hamartoma Syndrome

Increased risk for breast, thyroid, skin, endometrial, colon cancer

446
Q

GI hamartomas, macrocephaly, spekled penis, lipomatosis, delayed development, hemangiomatosis

PTEN gene mutation

A

Bannayan-Riley-Ruvalcaba Syndrome

447
Q

What drug causes chemo-induced diarrhea and severe autoimmune enteropathy?

A

5-FU with or without irinotecan

5-FU damages intestinal mucosa leading to loss of epithelium and increased secretion of fluids than can be absorbed by the colon leading to diarrhea

Irinotecan causes apoptosis and mucin hypersecretion

Cna cause neutropenic enterocolitis - typhlitis

448
Q

Where are the Meissner and Auerbach plexus located?

A

Meissner plexus is located at the base of the submucosa

Aerbach plexus lies between the inner circular layer and the outer longitudinal layers

449
Q

Why do premature infants require higher fat content in their nutrition?

A

Because they have an immature digestive system with impaired absorptive capacity

They have the most trouble digesting lipids because bile acid and pancreatic enzymes and lipase are reduced

Human milk contains lipase making it more easy to be absorbed

450
Q

What vitamin is lacking in goat’s milk?

A

Folic acid

451
Q

Which infections cause chronic diarrhea in immunocompetent patients? Immunocompromised?

A

Chronic diarrhea is diarrhea that occurs for > 4 weeks

Rotavirus and adenovirus cause “post-enteritis syndrome” in immunocompetent children

Cryptosporidium causes chronic diarrhea in immunocompromised children

452
Q

What is on the differential for an infant with an elevated A1AT?

A

It raises the possibility of congenital intestinal lymphangiectasia. However, in congenital intestinal lymphangiectasia, lymphatics are blocked and drain backwards into the bowels, leading to fat – rather than sugar – malabsorption

453
Q

Hypoexemia, intrapulmonary vascular dilations and liver disease resulting in pulmonary R–>L shunts

Present as clubbing, cyanosis, and spider nevi

Symptoms usually worse with standing

A

Hepatopulmonary syndrome

Diagnose with bubble echo

454
Q

Pulmonary vascoconstriction and liver disease resulting in increased pulmonary pressures

ECHO shows increased tricuspid regurg

A

Portopulmonary syndrome

Confirm diagnosis with heart cath

455
Q

What are the 3 findings on histology for NAFLD?

A

i) macrovesicular > microvesicular steatosis

ii) lobular inflammation consisting of neutrophils and lymphocytes (“mixed”)

(iii) hepatocyte ballooning. Fibrosis (portal > perisinusoidal in children) and glycogenated nuclei may also be present. In severe cases, extensive fibrosis leading to cirrhosis is present.

456
Q

What conditions cause short stature with a delayed bone age?

A

GH def
Hypothyroidism

457
Q

What predisposing factors increase your risk of rectal prolapse?

A

Rectal prolapse results from intussusception of the upper rectum and sigmoid colon

Predisposing factors, including:

i) increased intra- abdominal pressure, from constipation, coughing, or vomiting

ii) diarrheal illnesses, from parasites such as Ascaris lumbricoides and Trichuris trichiura or from malabsorptive syndromes such as celiac disease

iii) malnutrition (hypoproteinemia leading to mucosal edema and smaller fat pads reducing perirectal support)

iv) inflammatory lesions such as polyps producing lead points

v) cystic fibrosis (may occur in 20% of CF patients under 3, from a combination of coughing, malabsorptive diarrhea, and malnutrition).

458
Q

GI side effect of vincristine

A

Decreased motility

459
Q

What are 5 ways that mucus protects your gastroduodenal mucosal surface?

A

(1) trapping HCO3- in the unstirred layer

(2) preventing pepsin and gastric lipase from reaching and attacking the lining epithelial cells

(3) lubricating the gastric lining to prevent abrasions from coarse food particles

(4) neutralizing H+ with negatively charged glycoproteins and peptides of mucus

(5) trapping ingested bacteria

460
Q

dishwasher detergent, over, and drain cleaners…

A

Strong Alkali agents

461
Q

toilet bowl cleaner, swimming pool/coffee machine cleaners, antirust compunds, battery liquids

A

Strong Acidic agents

462
Q

Hair relaxer and household bleach

A

Cause minimal harm as burns are usually superficial

463
Q

Ingestion of ammonia causes…

A

caustic injury and chemical pneumonitis

464
Q

Name the diagnosis:

AR

Polyhydramnios, dilated small bowel, severe life threatening secretory diarrhea in first weeks of life, worsened with febrile illnesses and can lead to renal insuff and HTN

A

Congenital Chloride Diarrhea

MCC of severe congenital secretory diarrhea

increased urine Cl and decreased HC03 excretion

Hypochloremia and metabolic alkalosis

Tx: lifelong KCl and NaCl supplementation and PPI to decrease acid secretion

465
Q

What does gastrin do?

A

secreted from G cells in stomach after gastric distention

Increases H+ secretion

466
Q

What does choleycystokinin do?

A

Secreted from I cells in the duodenum and jejunum

  • Contracts the gallbladder
  • Relaxes Sphincter of Oddi
  • Increases secretion of pancreatic enzymes and Bicarb secretion
  • decreases gastric emptying
  • growth of exocrine pancreas and gallbladder
467
Q

What does secretin do?

A

Secreted from S cells in the duodenum

Stimulated by acid and fatty acids in the small bowel

  • Causes secretion of bicarb from the pancreas and biliary system

Inhibits gastric acid secretion

468
Q

What does GIP do? (gastric inhibitory peptide)

A

excreted from GIP cells in the small bowel

increases insulin secretion and decreases gastric acid secretion

469
Q

What does motilin do?

A

Causes forward motility

470
Q

What does histmaine do in the GI tract?

A

secreted by enterochromaffin cells in the stomach

stimulated by gastrin

increases gastric acid secretion

471
Q

What does somatostatin do?

A

secreted from D cells in the pancreas, stomach, and bowel

decreases release of all GI hormones and decreases secretion of gastric acid

472
Q

What does Vasoactive intestinal peptide do?

A

Relaxes GI smooth muscles and causes vasodilation

Increases secretion of bicarb from the pancreas and decreases gastric sacid secretion

increases intestinal secretions

473
Q

What does GRP do (bombesin)?

A

increases gastrin release from G cells

474
Q

What do substance P/K and enkaphalins do?

A

increase contraction of GI smooth muscles and decreases intestinal secretion of fluid and electrolytes

475
Q

Defect of SGLT1 transporter (Na/glucose/galactose co transport)

severe life threatening osmotic diarrhea in neontal period

Stool with decreased pH and increased osmolarity

Glycosuria

A

Glucose-galactose malabsorption

Treat with elimination of glucose and galactose

Give fructose containing formula

476
Q

How do you diagnose and treat abetalipoproteinemia?

A

Low cholesterol
Low serum lipoprotein
Low TGs

Biopsies with fat-laden enterocytes

Tx: low cholesterol and TG diet and MCT and fat soluble vitamin supplements

477
Q

Parasitic infection from raw or undercooked fish that can result in B12 deficiency?

A

D latum

478
Q

When should you treat salmonella gastroenteritis?

A

Only given antibiotics for nontyphoidal salmonella diarrhea to children < 3 months of age and older children who are immunocompromised

479
Q

2 year old day care attendee presents with fever, vomiting, bloody diarrhea, new tonic clonic seizure, WBC is elevated with significant bandemia, rectal prolapse

A

Shigella

  • most common cause of diarrhea, esp in daycare centers
  • children 1-4 years of age have the highest incidence
  • bloody diarrhea and SEIZURES are common
  • self-limited but antibiotics can be given in severe cases
  • Shiga-toxin HUS; no antibiotics because this leads to worsening HUS
  • Acalculous Cholecystitis can be seen after Shigella/Salmonella
480
Q

A 6 month old with beta-thalessemia has fever and the blood culture is growing a gram negative rod. What is the organism?

A

Yersinia entercolitica
- bacteremia more common in children < 1 year of age and in older children with iron overload, especially those who are transfusion dependent

481
Q
A
482
Q

Spiral/helical, found in contaminated water, poultry, or produce

A

Campylobacter

tx: azithromycin if patient is chronically ill, immunocompromised, if they have high fever, bloody stools, or more than 1 week of symptoms

483
Q

6 year old boy develops diarrhea followed by renal insufficiency, thrombocytopenia, and hemolytic anemia

A

E coli O157:H7

  • Do not treat with antibiotics because it doesn’t work!
  • common reservoirs include uncooked beef and unpasteurized milk or apple juice
484
Q

X-linked disorder

Mutation in FOXP3 gene

Triad: Autoimmune enteropathy (potentially bloody diarrhea), endocrinopathy (Diabetes), and eczema

High IgE, eosinophilia, food allergies

A

IPEX syndrome

compromised suppressor function of T cells so colonoscopy shows massive infiltration of lamina propria with T cells and villous atrophy

Fatal if untreated so give TPN and HSCT

485
Q
A
486
Q

18 year old presents with history of recurrent sinus/pulm infections, history of sprue-like illness with diarrhea and steatorrhea, low IgG/IgM/IgA, HSM (biopsy with noncaseating granulomas of the spleen and liver), and poor response to DTap vaccines on immunoglobulin testing. What is the diagnosis?

A

Common Variable Immunodeficiency
- recurrent sinopulm infections with encapsulaed bacteria
- def of at least two immunoglobulins
- poor immunoglobulin function
- presents in teens and 20s
- B cells recognize the antigen but cannot make plasma cells
- nodular lymphoid hyperplasia and splenomegaly
- PANhypogammaglobulinemia
leads to recurrent infections, giardia, unexplained bronchiectasis
- tx: monthly IVIG

487
Q

8 month old boy presents with recurrent otitis media, 2 episodes of recurrent PNA that require hospitalization (both strep), persistent giardiasis, and absent lymph nodes and tonsils. What is the most likely diagnosis?

A

X-linked Bruton Agammaglobulinemia

  • XLA
  • strictly in males
  • recurrent infections in absent to low IgG leels
  • mutation in BTK gene that encodes for Bruton tyrosine kinase which is needed for B cell development
  • healthy until 4-6 months of age at which time they are no longer getting IgG from their mother
  • normal T cell immunity
  • recurrent infection with encapsulated organisms
  • treat with month IVIG and no live virus vaccines
488
Q
A
489
Q

What syndrome has these characteristics?

  • severe thrombocytopenia
  • small platelets
  • eczema
  • immunodeficiency
  • X-linked
A

Wiskott-Aldrich Syndrome

  • SMALL platelets (ITP has LARGE platelets)
  • increased risk of lymphoma

“EXIT” - Eczema, X-linked, Immunodeficiency, Thrombocytopenia

risk of lymphoma; low IgM, high IgG/IgA
- get invasive infections from encapsulated organisms

treat with antibiotics, IVIG and possible splenectomy

might require BMT before age 5

490
Q

What is the mechanism of action of 5-ASA medications for Crohn’s Disease?

A

Sulfasalazine and Mesalamine

Used to induce or maintain remission

Anti-inflammatory as it inhibits prostaglandin and leukotriene synthesis. Minimally absorbed so it can decrease inflammation of bowel

SE: folic acid deficiency, pancreatitis, interstitial nephritis, hepatitis

491
Q

What is the mechanism of action of thiopurines in treatment of Crohns Disease?

A

6-Mp and AZA

Maintains remission and can be used in combination with anti-TNFs

Antimetabolite actions lead to immunoosuppression and lymphotoxicity and may decrease antibody formation

SE: bone marrow suppression, hepatotoxicity, pancreatitis, lymphoma, skin cancer

Monitor TPMT enzyme activity as well as CBC, LFTs

492
Q

What is the mechanism of action of anti-TNFalpha medications in treatment of Crohns Disease?

A

Infliximab and Adalimumab

Neutralizes TNF alpha and blocks leukocyte migration and induces apoptosis of T cells and monocytes

SE: lymphoma, nonmelanoma skin cancer, TB, psoriasis, demyelination syndrome

493
Q

What is the mechanism of action of antiadhesion medications in treatment of Crohns Disease?

A

Vedoluzimab (Entyvio) and Nataluzimab

monoclonal IgG therapies that work against alpha 4 beta 7 integrins

This inhibits leukocyte migration across endothelium in inflamed bowel

Nataluzimab can cross the blood brain barrier and cause progressive multifocal leukoencephalopathy in patients positive for JC virus so get titers for JC virus

494
Q

17 year old presents with recurrent buccal aphthous ulcers, painful recurrent genital aphthous ulcers, anterior uveitis and papilledema, erythema nodosum, and a positive pathergy test. What is the diagnosis?

A

Behçet Disease

  • pin, recurrent oral/genital ulcers, inflammatory eye disease
  • positive pathergy test: skin prick with papules 2 days later
  • recurrent oral and GU ulcers that heal without scarring
  • arthritis, vasculitis, CNS issues
495
Q

What constitutes hamartomatous polyps?

A

Juvenile Polyps

Peutz-Jeghers Syndrome

Juvenile Polyposis Syndrome

496
Q

What constitutes adenomatous polyps?

A

FAP
Gardner Syndrome
Lynch Syndrome

497
Q

What lab finding is a hallmark of disorders of fatty acid oxidation?

A

Hypoketotic hypoglycemia

498
Q

Marked hepatomegaly but no splenomegaly, hypoketotic hypoglycemia, increased ammonia and LFTs, normal bili

A

MCAD deficiency (fatty oxidation disorder)

Diagnose with urine organic acids and acylcarnitine profile

Liver biopsy shows microvesicular hepatic steatosis and mitochondrial disruption

499
Q

If you are concerned for liver failure secondary to a mitochondrial disease, what labs should you send and when?

A

Lactate/pyruvate ratio, 1 hr after feeding

500
Q

Increased ammonia with metabolic acidosis and positive ketones in the urine

A

Organic acidemia

501
Q
A
502
Q

Mst cases of this disorder occur in children 3-5 years of age with:

  • ataxia
  • dysphagia
  • loss of vertical eye movement
  • reflex eye movements are preserved
  • HSM
  • cataplexy with an emotional scare
  • common narcolepsy

Older children present with poor school performance and impaired fine motor skills

What is the diagnosis?

A

Niemann Pick Disease Type C

  • when cholesterol accumulates within the lysosomes of the reticuloendothelial system
  • results in secondary build up of GM2 ganglioside molecules
  • cherry red spots on eye exam
503
Q
A
504
Q

What is the most common lysosomal storage disease?

A

Gaucher Disease Type 1

  • deficiency of lysosomal glucocerebrosidase
  • non-CNS disease with splenomegaly
  • liver biopsy shows portal macrophages that are weakly PAS positive with “crinkled paper” appearance
505
Q

Which medication causes ground glass cytoplasmic inclusions?

A

Mycophenolate
Insulin
Diazepam
Tacro
Steroids

506
Q

Which medications cause acute hepatitis?

A

Tylenol
Halothane

507
Q

Which medications cause AIH-like histology?

A

Minocycline
Nitrofurantoin
Remicade

508
Q

Which medications cause acute cholestasis histology?

A

Cyclosporine
Estrogen
Augmentin
Haloperidol

509
Q

Which medications cause granulomatosis?

A

Carbemazapine
PCN
Sulfonamides
Isoniazid
Allopurinol

510
Q

Which medications cause liver cell adenoma?

A

OCPs and anabolic steroids

511
Q

Which medications cause macrovesicular steatosis?

A

L-asparaginase

512
Q

Which medications cause macrovesicular steatosis and fibrosis?

A

MTX

513
Q

Which medications cause microvesicular steatosis?

A

Valproic acid and tetracycline

514
Q

Which medications cause mixed hepatitis and cholestasis?

A

Valproic acid and tetracycline

515
Q

Which medications cause nodular regenerative hyperplasia?

A

AZA

516
Q

Which medications cause phospholipidosis?

A

Amiodarone

517
Q

Which medications cause zonal cell necrosis?

A

Tylenol

518
Q

What does the immune clearance phase mean in Hep B infection?

A

The immune clearance phase is characterized by high levels of HBV DNA, elevated ALT levels, and active liver inflammation. Initially, those in the immune clearance phase will be HBeAg-positive and most will eventually clear HBeAg and develop antibody to hepatitis B e antigen (anti-HBe).

519
Q

What does the immune tolerance phase mean in Hep B infection?

A

Active impressive Hep B with no evidence of immunity

In the immune‐tolerant phase, the host immunity against HBV is weak. So, the viral load is high. AST/ALT is low because there is no attack on the infected hepatocytes by the weak host immune system. In the immune‐active phase, host immunity become strong and infected hepatocytes are attacked, and AST/ALT increases.

520
Q

What statistical tests are influenced by the prevalence of the disease?

A

Positive and Negative Predictive values

  • If the disease is very prevalent, then a positive test is likely to be a true positive
  • If a disease is very rare, a positive test is less likely to be a true positive
521
Q

What is the incidence of a disease?

A

The occurrence of new cases of a disease within a specified period of time

  • Also the probability that a person develops that disease during that period of time
  • (total # of new cases of a disease)/(total # tested during a specific time)
522
Q

What statistical parameter refers to how well a test correctly identifies those in a population with a given disease?

A

Sensitivity
- how well it correctly identifies those who have the disease
= TP/(TP + FN) = TP/ #diseased
- tests that are highly sensitive will have a low false-negative rate
- SNOUT: SeNsitive tests help rule OUT disease

523
Q

What statistical parameter identifies how well a test rules out those in a population who do not have a given disease?

A

Specificity
- highly specific tests convey with certainty that a positive result means that a actually has the disease
- SPIN: SPecific tests help rule IN a disease
- because the false-positive rate is so low
= TN/ (TN+FP) = TN/(#not diseased)

524
Q

What is the prevalence of a disease?

A

Percent of people in a population who have the disease at any given point in time
= #diseased/total in studied population
- indicates how widespread a particular disease is

525
Q

What statistical measure helps determine the usefulness of a screening test?

A

Positive Predictive Value
- Probability of disease in a patient with a positive test
- Takes into consideration number of true and false positives
- Reflects prevalence
- Percentage of positive tests that are actually true positives so the higher the number the better
= TP/(TP+FP)

526
Q

What are the 2 main observational study designs?

A

Cohort and Case-Control Studies

  • attempt to correlate exposures with outcomes
  • Case Control coparents subjects with a condition and patients without the condition and retrospectively analyzes whether risk factors are more common in the cases or controls
  • Cohort: follow a group of people prospectively over time to see which exposures cause disease
  • an observational study that coparents prospectively over time a group of subjects with a particular treatment, exposure, or condition vs a group of unexposed subjects
  • allows for evaluation of multiple potential effects over time for a particular exposure
  • did the exposure cause the effect or were there other factors unaccounted for?
  • Case-Control: comparing people with the disease to those without the disease to identify relevant risk factors
  • coparents subjects with a condition and patients without the condition and retrospectively analyzes whether risk factors are more common in the cases or controls
527
Q

What are the 2 common errors that statistical analyses attempt to prevent?

A

Type 1 and 2 Errors
- Tye 1 Error: concluding there is a difference between groups or outcomes (rejecting null hypothesis) when there is not. Exposed by investigating the p value

  • Type 2 Error: concluding there is not difference between groups and outcomes (accepting the null hypothesis or failing to reject the null hypothesis) when one actually exists. Exposed by investigating the power of a study
528
Q

What does FODMAP stand for?

A

Fermentable Oligosaccharides, Disaccharides, Monosaccharides, and Polyols

Monosaccharides - fructose

Disaccharides - lactose

Oligosaccharides - fructans and galactans

Polyols - sorbitol, mannitol, isomalt

529
Q

High ammonia, no metabolic acidosis, and METABOLIC ALKALOSIS

A

Urea Cycle Defect

530
Q

High ammonia, METABOLIC ACIDOSIS, no ketones in the urine

A

Fatty Acid oxidation disorders

531
Q

Increased ammonia plus metabolic acidosis and ketones in the urine

A

Organic acidemia

532
Q

inborn error of branch chain ketoacid dehydrogenase that causes hypoglycemia, delayed global development, and increased urinary and plasma leucine levels

A

Maple Syrup Urine Disease

GI Boards Study (2 decks)

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