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GI Flashcards

1
Q

Recurrent abdominal pain definition

A

Once/week for last 2 months

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2
Q

What meds should you consider for functional abdomial pain

A

Anticholinergic, amitriptyline, SSRI

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3
Q

Definition of IBS

A
  1. Pain and relief with defection or onset associated with change in for or frequency of bowel movements
  2. At least once per week over the course of 2 months
  3. Tends to occur in families
  4. No organic cause
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4
Q

Rx for IBS

A

Reduce sorbitol, fructose, cruciferous veggies, increasing soluble fiber, SSRIs/TCAs

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5
Q

Pattern: Pain in upper abdomen, no signs of gastritis on endocsopy, esophageal pH testing

A

Non-ulcer dyspepsia

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6
Q

Pattern: acute, incapacitating, periumbilical pain; anorexia, nausea, vomiting, HA, pallor, photophobia, symptom-free periods

A

abdominal migraine

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7
Q

Test for Sphincter of Oddi Dysfunction

A

ERCP manometry, HIDA scan

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8
Q

What is the cause of familial mediterranean fever

A

serositis causing abdominal pain

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9
Q

Vomiting and fever

A

infection, inflammation

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10
Q

Vomiting and tenderness/guarding

A

inflammation

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11
Q

vomiting and tachycardia, loss of skin turgor, dry mucous membranes

A

Dehydration

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12
Q

vomiting and sclerodactylyl

A

scleroderma

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13
Q

vomiting and loss of dental enamel

A

GERD, bulimia

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14
Q

Vomiting and adenopathy

A

neoplasm

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15
Q

vomiting and high pitched bowel sounds

A

obstruction

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16
Q

vomiting and absent bowel sounds

A

ileus

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17
Q

asterixis

A

uremia, liver failure

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18
Q

Vomiting and air-filled distended loops

A

ileus, pseudo-obstruction

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19
Q

vomiting and retained food in upper endoscopy

A

gastroparesis

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20
Q

What evaluation would you do for dysphagia?

A

upper GI, endoscopy, esophageal manometry

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21
Q

4 anatomic congenital causes of dysphagia

A

Esophageal web, tracheobronchial remnant, vascular ring, Schatzki ring (ring of mucosa/muscular tissue in distal esophagus)

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22
Q

What can esophageal strictures that cause dysphagia be caused by?

A

caustic ingestion or chronic GERD

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23
Q

Ingestion of alkalis can cause what injury

A

deep liquefaction necrosis through all layers

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24
Q

Ingestion of acids cause what injury

A

Thick eschar that limits depth of injury, bitter taste limits ingested volume

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25
Q

Pattern: salivation, refusal to drink, nausea and vomiting, epigastric pain, burns or ulcerations to lips or mouth, fever and leukocytosis

A

Caustic ingestions

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26
Q

Rx of caustic ingestions

A

oral administration of water or milk to dilute, intubation if airway edema, EGD within 48 hours to assess burns, broad spectrum antibiotics for suspected perforation/mediastinitis

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27
Q

How to detect radiolucent foreign bodies in esophagus

A

endoscopy

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28
Q

Within how many hours can button batteries cause perforation?

A

4 hours

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29
Q

When does GERD peak

A

4 months

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30
Q

Risk factors for GERD

A

Down syndrome, MRCP, prematurity

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31
Q

Test for gastroparesis

A

nuclear med gastric emptying

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32
Q

Pattern: baby fails to pass meconium (multiple)

A

Hirschsprung, anal stenosis, intestinal peudo-obstruction, hypoTH, meconium plug

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33
Q

What genetic disorder predisposed to Hirschsprung?

A

Down

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34
Q

What are dx tools for Hirschsprung

A

unprepared barium enema, full thickness biopsy and do ACh staining

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35
Q

Rx for Hirschsprung’s

A

Colonic resection, endorectal pull-through

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36
Q

Pattern: delayed passage of meconium, signs of obstruction, FTT, enterocolitis, soiling rare, anal fissure/fecal impaction rare, behavioral problems rare, small stool caliber

A

Hirschsprungs

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37
Q

Pattern: frequent soiling, difficulty toilet training, stool in the rectal vault on PEx, very large stools, no FTT

A

Functional constipation

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38
Q

GI bleeding in infant

A

milk protein allergy

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39
Q

GI bleeding in child

A

anal fissure, juvenile polyp, swallowed epistaxis, PUD, intussusception

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40
Q

GI bleeding in adolescent

A

IBD, bacterial enteritis, anal fissure, Mallory-Weiss, polyp

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41
Q

Pattern: 16yo with colonic adenomas

A

Familial adenomatous - polyposis APC gene mutation, 100% risk ofCA

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42
Q

Pattern: small bowel and colonic adenomas and supranumerary teeth

A

Gardner’s syndrome, APC mutation, 100% risk of colon CA

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43
Q

Pattern: hamartomatous polyps, lip/gum freckling, requiring polypectomy

A

Peutz-Jegher’s; sl increase in colon CA

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44
Q

Pattern: hamartomatous polyps in small bowel and colon

A

Juvenile Polyposis Syndrome PTEN, SMAD4, BMPR1 gene mutations, 10% risk of colon CA

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45
Q

Pattern: colonic adenomas, endometrial/renal/GBM

A

Hereditary non-polyposis colon cancer

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46
Q

Pattern: 2.5 yo with intermittent painless rectal bleeding that can become infected, followed by intussusception and can cause obstruction

A

Meckel’s Diverticulum

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47
Q

What is the diagnosis for Meckel’s diverticulum?

A

Technetium-pertechnetate scan, increased sensitivity with ranitidine

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48
Q

What tests to do to confirm serologic H pylori cause of peptic ulcer dx?

A

urea breath hydrogen testing or stool H pylori antigen testing

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49
Q

Caveat to interpreting serologic H pylori testing

A

May be old infection

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50
Q

Rx for H pylori

A

PPI plus two antibiotics (amoxicillin and clarithromycin) for 14 days

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51
Q

What are causes of secretory diarrhea?

A

cholera, toxigenic e. coli, C. difficile, cryptosporidiosis

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52
Q

What are causes of inflammatory diarrhea

A

salmonella, shigella, staph aureus, yersinia, campylobacter, B cereus

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53
Q

Do you need to treat salmonella?

A

No. carriers are typically asymptomatic

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54
Q

Do you need to treat shigella?

A

Bactrim, pt always symptomatic, person to person transmission

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55
Q

Diarrhea and reactive arthritis

A

salmonella, shigella, yersinia, campylobacter

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56
Q

Diarrhea and bloody diarrhea

A

HUS

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57
Q

Diarrhea and short incubation

A

C. perfringens, B. cereus

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58
Q

Diarrhea and seizures

A

shigella

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59
Q

Pattern: diarrhea for >1 week, stool cultures negative

A

parasitic - giardia, cyclospora, isospora

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60
Q

Pattern: fever 1-2 days, vomiting followed by 5 to 7 days diarrhea, no stool wbcs

A

Viral - rota adeno astro noro

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61
Q

Causes of Diarrhea >1 day in first month of life

A

Cow’s milk protein allergy, sucrase-isomaltase, gluc-galact malabsorption, pancreatic insufficiency from Schwachman-Diamond syndrome

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62
Q

Causes of diarrhea in 1 month to 2 years of age

A

Toddler’s diarrhea, post-infectious enteropathy, parasitic (giardia lamblia), rota no nror and adeno

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63
Q

Suspicious of diarrhea after camping/daycare

A

stool antigen for giardia and treat with metronidazole

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64
Q

Causes of diarrhea in 2 to 18

A

Celiac sprue, post-infectious, excessive juice, IBS, IBD, laxative abuse

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65
Q

Pattern: small volume of diarrhea, bloody, mucoid, urgency and tenesmus

A

colitis, UC or infectious

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66
Q

Pattern: diarrhea, distension, gas, explosive

A

giardiasis or sorbital excess

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67
Q

Dx for celiac disease

A

EGD with biopsies

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68
Q

Dx for IBD

A

colonoscopy with biopsies

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69
Q

Dx for colitis

A

stool WBC’s

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70
Q

Dx for milk protein allergy

A

stool eosinophils

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71
Q

Dx for CF, Schwachman-Diamond

A

Fecal fat

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72
Q

Dx for giardia

A

stool antigen

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73
Q

Dx for carbohydrate malabsorption

A

stool reducing substances

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74
Q

Pattern: protracted diarrhea of infancy - longer than 2 weeks in infant (multiple)

A

chronic enteropathies, microvillus, inclusion disease, tufting enteropathy

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75
Q

Pattern: protracted diarrhea in childhood (multiple)

A

autoimmune enteropathy, celiac disease, post-infectious diarrhea

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76
Q

Best oral rehydration

A

pedialyte

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77
Q

Pattern: 10wk old with 2wk h/o watery, mucoid stools with strongs of bright red blood, gassy.

A

Milk protein allergy

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78
Q

Soy has what percentage cross over allergen with cow’s milk

A

40%

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79
Q

Can cow’s milk protein ingested by mom cross into breastmilk?

A

yes

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80
Q

What are two protein-losing enteropathy?

A

Lymphangiectasia, Crohn’s disease

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81
Q

What is Toddler’s diarrhea?

A

malabsorption of sorbitol and fructose

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82
Q

Pattern: steatorrhea, acanthocytosis

A

abetalipoproteinemia

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83
Q

Pattern: PLE, hypogamm, steatorrhea, lymphedema, lymphopenia

A

lymphangiectasia

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84
Q

What is malabsorbed in lysinuric protein intolerance

A

dibasic AAs

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85
Q

What is malabsorbed in Harnup disease

A

free neutral AAs

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86
Q

What is malabsorbed in blue diaper syndrome

A

tryptophan

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87
Q

What is malabsorbed in acrodermatitis enteropathica

A

zn

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88
Q

What is malabsorbed in Menke’s disease

A

cu

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89
Q

What is malabsorbed in terminal ileal disease (Crohn’s)

A

Folate, B12

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90
Q

Pattern: diarrhea, abdominal distension, proximal muscle wasting, weight loss, anorexia, abdominal pain

A

Celiac disease

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91
Q

Pattern: diarrhea, anemia, dermatitis herpetiformis or other immune disease

A

Celiac disease

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92
Q

What HLA class I molecule is associated with celiac disease?

A

gliadin, DQalphaBeta, haplotypes found in >95% of patients

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93
Q

Celiac disease is associated with what other immune disease

A

IgG deficiency and hypogammaglobulinemia

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94
Q

How would you screen for celiac disease?

A

Tissue transglutaminase IgA, antiendomysial antibodies (anti-gliadin not sensitive or specific)

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95
Q

gold standard for celiac disease diagnosis

A

upper endoscopy with biopsy

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96
Q

Dx for lactase deficiency

A

lactose breath hydrogen testing, lactase activity on duodenal biopsy or simple challenge/withdrawal

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97
Q

Pattern: Eskimo child, diarrhea, abdominal pain, bloating with pureed fruits or juices or with starch/cornstarch

A

sucrase-isomaltase deficiency

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98
Q

Dx of sucrose-isomaltase deficiency

A

acid hydrolysis of stool first, hydrogen breath testing, enzyme activity in biopsy during upper endoscopy

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99
Q

Rx for sucrose-isomaltase deficiency

A

Restriction of sucrose containing foods, enzyme replacement with yeast enzyme sacrosidase (Sucraid)

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100
Q

Inheritance of sucrose-isomaltase and glucose-galactose deficiency

A

AR

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101
Q

Pattern: diarrhea at birth, dehydration and metabolic acidosis increase and lactose containing formula fed infant

A

Glucose-galactose malabsorption

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102
Q

Rx for glucose-galactose malabsorption

A

fructose only carbs pt can eat

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103
Q

What % of CF pt has pancreatic insufficiency?

A

85-90% by one year

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104
Q

How do you monitor pancreatic insufficiency in CF patient?

A

Fecal elastase

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105
Q

Pattern: pancreatic insufficiency, bone marrow failure (cyclic neutropenia, defect in neutrophil chemotaxis, thrombocytopenia, anemia) metaphyseal dysostosis, FTT, short stature, oily, sticky foul smelling stools

A

Schwachman-Diamond Syndrome

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106
Q

Differences between Schwachman-Diamond and CF

A

nl sweat test, no CF mutation, metaphyseal lesions, fatty pancreas on imaging, infection more generalized and not just primarily pulmonary

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107
Q

Major cause of morbidity and mortality for Schwachman-Diamond patient

A

pyogenic infections

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108
Q

Crohn’s or UC?

Transmural, skip lesions

A

Crohn’s

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109
Q

Crohn’s or UC?

Bimodal age, first peak during adolescence

A

Crohn’s

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110
Q

Crohn’s or UC?

obstructive small bowel disease, RLQ pain, fibrostenotic

A

Crohn’s

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111
Q

Crohn’s or UC?

cramping, diarrhea, bleeding colonic diseae

A

Crohn’s

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112
Q

Crohn’s or UC?

inflammatory becomes structuring, perforating

A

Crohn’s

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113
Q

Crohn’s or UC? systemic signs, malaise, anorexia, growth failure/weight loss, pubertal delay

A

Crohn’s

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114
Q

Crohn’s or UC? perianal disease, skin tags, fistulae

A

Crohn’s

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115
Q

Crohn’s or UC? fistulae between loops of bowel (bowel to vagina or bladder or bowel to skin)

A

Crohn’s

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116
Q

Crohn’s or UC? erythema nodosum, arthritis, aphthous ulcers, clubbing, episcleritis/uveitis, renal stones and gallstones

A

Crohn’s

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117
Q

Crohn’s or UC? acute abdomen

A

Crohn’s

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118
Q

Crohn’s or UC? anemia, thrombocytosis, hypoalbuminemia

A

Crohn’s

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119
Q

Crohn’s or UC? Anti-saccharomyces

A

Crohn’s

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120
Q

Crohn’s or UC? fecal calprotectin and lactoferrin (neutrophil proteins shed in stool)

A

Crohn’s

121
Q

Crohn’s or UC? non-caseating granulomas on upper endoscopy and colonscopy

A

Crohn’s

122
Q

Crohn’s or UC? on upper GI/SBFT, thumbprinting, string sign, cobblestoning

A

Crohn’s

123
Q

Rx for Crohn’s

A

corticosteroids, aminosalicylates, flagyl, immunomodulators, anti-TNF biologics infliximab

124
Q

Crohn’s or UC?

Limited to mucosal layer and to colon sparing upper GI

A

UC

125
Q

Crohn’s or UC? bloody, mucoid, purulent diarrhea, tenesmus, urgency, frequency, cramping, nocturnal stools

A

UC

126
Q

Crohn’s or UC? pyoderma gangrenosum, PSC, chronic active hepatitis, anklyosing spondylitis (HLA B27)

A

UC

127
Q

Crohn’s or UC? risk of colon CA, requiring surveillance colonoscopies every 1-2 years for dysplasia

A

UC

128
Q

Crohn’s or UC? crypt abscesses, crypt branching on biopsy

A

UC

129
Q

Crohn’s or UC? pseudopolyps, continuous erythema, loss of vascularity

A

UC

130
Q

Crohn’s or UC? toxic megacolon, fevers, hypoalbuminemia

A

UC

131
Q

Rx for UC

A

5-ASA mesalamine

132
Q

Crohn’s or UC? pouchitis

A

UC

133
Q

Crohn’s or UC? cured by surgical excision

A

UC

134
Q

Pattern: weakness, rhabdomyolysis, neutrophil dysfunction, arrhythmia, seizure, AMS, sudden death in child with malnutrition just started feeds again

A

Hypophosphatemia

135
Q

Pattern: arrhythmias, weakness, nausea and vomiting with refeeding

A

hypokalemia

136
Q

Pattern: arrhythmias, tetany, nausea, vomiting

A

hypomagnesemia

137
Q

What vitamin deficiency is a part of refeeding syndrome?

A

thiamine

138
Q

What can happen with serum glucose in refeeding syndrome?

A

hyperglycemia

139
Q

Daily fluid requirement for infants and children

A

100ml/first 10kg + 50ml/next 10kg + 20ml/remainder

140
Q

How much water is in human milk or formula?

A

89%

141
Q

How much caloric requirement for 20kg?

A

20kg – 1500kcal+20kcal/kg for each kg above 20kg

142
Q

Additional calories required for: hypermetabolic state due to recent surgery

A

20%

143
Q

Additional calories required for: multiple trauma

A

25%

144
Q

Additional calories required for:Severe infection

A

50%

145
Q

Additional calories required for: uncomplicated starvation

A

50%

146
Q

Additional calories required for: third degree burns

A

100%

147
Q

Predominant protein in breast milk

A

Whey

148
Q

What three proteins in human milk protect child again local infection?

A

IgA, lactoferrin, lysozyme

149
Q

How much protein is needed in infants

1) during first month
2) by 6th month
3) premature infants

A

1) 2 - 2.4g/kg/day
2) 1.5g/kg/day
3) 3.5g/kg/day

150
Q

What are three major categories of lipids in Western diet?

A

triglycerides
phospholipids
sterols (cholesterol)

151
Q

How many carbons on

1) SCTriglyceride
2) MCT
3) LCT

A

1) 12

152
Q

Which are essential fatty acids?

A

Linoleic

Linolenic

153
Q

Pattern: scaly dermatitis, hair loss, diarrhea, poor wound healing, growth failure

A

Essential fatty acid deficiency

154
Q

How soon can deficiency in essential FAs occur in infants?

A

Within 2 weeks

155
Q

Pattern: premature infant, scaly skin, diarrhea, poor wound healing, growth failure?

A

EFAD

156
Q

Pattern: child with hepatobiliary or pancreatic disease with sacly skin, growth failture

A

EFAD

157
Q

Pattern: Child on long term TPN without IV lipids, diarrhea, poor wound healing

A

EFAD

158
Q

What is daily recommended % of calories of EF needed to prevent deficiency?

A

2-4%

159
Q

How much Linoleic acid is in

1) Human milk
2) commercial formulas
3) cow’s milk

A

1) 3-7%
2) 10%
3) 1%

160
Q

Recommendation for fat intake in children.

1) % total fat
2) % saturated
3) cholesterol

A

1)

161
Q

What milk type has most whey?

A

Breast milk

162
Q

What milk type has most casein?

A

Cow’s milk

163
Q

What LCFAs are found in highest concentration in breast milk in 1st month?

A

DHA, ARA

164
Q

What are DHA and ARA LCFA’s useful for?

A

Improving vision and cognition

165
Q

What triglyceride is best for premature infants? Why?

A

MCT because they have decreased amount of intraluminal bile acids and decreased absorption of LCFA.

166
Q

What vitamin deficiency is this?

CHF, tachycardia, peripheral edema

A

B1 wet

167
Q

What vitamin deficiency is this?

Neuritis, peripheral paresthesia, irritability, anorexia

A

B1 dry

168
Q

What vitamin deficiency is this?

Confusion, ataxia, opthlamoplegia

A

B1 Wenicke-Korsakoff

169
Q

What vitamin deficiency is this?
Seborrheic dermatitis, angular stomatitis, photophobia, loss of visual acuity, burning an ditching of eyes, corneal vascularization, glossitis, poor growth

A

B2

170
Q

What vitamin deficiency is this?

Preemie on prolonged phototherapy

A

B2

171
Q

What vitamin deficiency is this?

Peripheral neuritis in child with suspected TB, seb derm, cheilosis, sideroblastic anemia

A

B6 - needed for iron utilization for hemoblogin synthesis

172
Q

What vitamin deficiency is this?

Breast fed infants of vegan mothers, macrocytic anemia, hypersegmented neutrophils, ataxia, periphral neuropathy

A

B12

173
Q

What vitamin deficiency is this?

Pt s/p distal small bowel resection

A

B12

174
Q

What vitamin deficiency is this?

Petechiae, poor wound healing, easy fractures of bone, friable bleeding gums with loose teeth, microcytic anemia

A

C - scurvy

175
Q

What vitamin deficiency is this?

Dermatitis of sun-exposed skin

A

B3

176
Q

What vitamin deficiency is this?

macrocytic anemia/leukopenia, poor growth, imparied cellular immunity, glossitis, diarrhea, neural tube defects

A

B9 (folate)

177
Q

Goat’s milk is deficient in what?

A

Folate

178
Q

Pattern: dermatitis, anorexia, glossitis, muscle pain, insomnia, alopecia

A

biotin

179
Q

What are 3 water-soluble vitamins that can cause toxicity?

A

Niacin, Vitamin B6, Vitamin C

180
Q

Pattern: skin flushing, tingling, itching, dizziness, nausea, liver test abnormalities

A

Niacin toxicity

181
Q

Pattern: sensory neuropathy, progressive ataxia, altered sense of touch and pain

A

B6 toxicity

182
Q

Pattern: nausea, diarrhea, cramps, kidney stones (oxalate and cysteine nephrocalcinosis)

A

Vit C

183
Q

3 types of patients at high risk for fat sol vitamin deficiency

A

chronic liver disease, pancreatic insufficiency, short bowel syndrome

184
Q

Antibiotic therapy can cause deficiency of what vitamin?

A

vit K

185
Q

Renal disease could cause deficiency of what vitamin?

A

vit D

186
Q

Pattern: night blindness, retinal degeneration, xerophthalmia, photophobia, conjunctivitis, keratomalacia, follicular hyperkeratosis, poor growth, impaired resistance to infection

A

Vit A deficiency

187
Q

Pattern: enlargement of costochondral junctions, chostochondral beading widening of epiphyses with thickening of the wrists and ankles, bowing, craniotabes

A

Vit D deficiency

188
Q

Pattern: hemolytic anemia in premature infants, ataxia, hyporeflexia, decreased vibratory and position sensation, proximal muslce weakness, ophthlamoplegia/retinal dysfunction, neurocognitive changes

A

Vit E deficiency

189
Q

Pattern: easy bruisability/soft-tissue hemorrhage, hemorrhagic disease, prolonged PT and PTT, defective bone and collagen production

A

Vit K deficiency

190
Q

Pattern: dry, rough cracking skin and alopecia, carotenemia, pseudotumor cerebri, hepatosplenomegaly, bone pain in children

A

Vit A toxicity

191
Q

Pattern: hypercalcemia, anorexia, vomiting, abdominal pain, constipation, convulsions

A

Vit D toxicity

192
Q

Pattern: tired and weak, decreased work and school performance, slow cognitive and social development during childhood, difficulty maintaining body temperature, decreased immune function, glossitis

A

Iron deficiency

193
Q

Pattern: Myositis, cardiomyopathy, macrocytic anemia, loss of skin and hair pigmentation

A

selenium deficiency

194
Q

Pattern: rash, poor wound healing, impaired cellular immunity, anorexia, diarrhea, growth failure, low alkaline phosphatase

A

Zinc deficiency

195
Q

Pattern: bullous and pustular lesion of oral, anal, genital areas and extremities, alopecia, diarrhea, opthalmologic problems (blepharitis, conjunctivitis, photophobia, corneal opacities)

A

Acrodermatitis enteropathica, AR disorder defect in zinc absorption

196
Q

Pattern: microcytic anemia which does not respond to Fe supplementation, neutropenia, depigmentation of hair and skin, bone abnormalities

A

Cooper deficiency

197
Q

Pattern: 2-3 mo male with loss of milestones/neurodegenerative disease, truncal hypotonia/seizures, FTT, abnormal, lightly pigmented, kinky hair, eyebrows, and eyelashes, connective-tissue and skeletal abnormalities

A

Menkes

198
Q

What is the mutation in Menkes disease

A

X-linked (mutation of Xq13.3 gene) of impaired tranport of dietary Cu from the intestine

199
Q

Major difference b/w Kwashiorkor and marasmus

A

Kwashiorkor is deficiency of protein. Marasmus inadequate caloric intake

200
Q

Pattern: lethargy, apathy, irritability, anorexic, poor growth, loss of muscular tissue, immunodeficiency, edema, alopecia, scaly, erythematous dermatitis with darkening at sites of irritation

A

Kwashiorkor

201
Q

Pattern: failure to gain weight, loss of fat and muscle, wasted, emaciated appearance, hypothermia, bradycardia, no hepatomegaly

A

marasmus

202
Q

Difference in Kwashiorkor and Marasmus

A

Kwashiorkor - hepatomegaly, edema, anorexia; marasmus none of that

203
Q

Which vitamins are typically deficient in Crohn’s patients?

A

iron, folate, vitB12, zinc, selenium, ADEK, ca, mg

204
Q

Pattern: newborn with fulminant hepatitis

A

metabolic, tyrosinemia, galactosemia, fructosemia

205
Q

Reducing substances in urine and fulminant hepatitis

A

galactosemia

206
Q

liver failure after introduction of fruit juices

A

fructosemia

207
Q

liver failure and succinylacetone in urine

A

tyrosinemia

208
Q

Pattern: liver failure, jaundice, increase conjugated bilirubin, inc AST/ALT

A

Alpha-1 antitrypsin deficiency

209
Q

Pattern: fetal hydrops, profound cholestasis and early death, iron deposition in liver

A

Neonatal iron storage disease, familial, increased iron and ferritin; due MRI of abdomen

210
Q

3 causes of neonatal hepatitis

A

Tyro, galacto, fructosemia
Alpha-1 antitrypsin deficiency
Iron storage disease

211
Q

Most common cause of neonatal hepatitis

A

Infection

TORCHES, adeno, echo, coxsackie

212
Q

Pattern: liver problem at birth, SGA, sepsis, enlarged liver, spleen, rashes

A

hepatitis from infection

213
Q

Why don’t you always see elevated conjugated bili in newborns?

A

Liver is still so immature

214
Q

What lab work is typically associated with neonatal liver infection?

A

high WBC, low platelets

215
Q

Dx galactosemia

A

reducing substance in urine

216
Q

Dx fructosemia

A

liver failure after fruit juices

217
Q

Dx tyrosinemia

A

urine succinylacetone

218
Q

Pattern: increased conjugated bilirubin with elevated AST/ALT, jaundice resolves in first 6 months

A

alpha-1 antitrypsin deficiency

219
Q

Dx alpha-1 antitrypsin

A

alpha-1 antitrypsin, genotype ZZ

220
Q

Pattern: fetal hydrops, profound cholestatis, early death, iron deposition in liver and OTHER organs, present very sick

A

neonatal iron storage disease, increased iron, increased ferritin, MRI T2

221
Q

Cause of neonatal iron storage

A

familial

222
Q

Only hep virus that is DNA

A

Hep B

223
Q

Transmission of HepA

A

poor hygiene, contaminated food and water

224
Q

Pattern: child between 5 to 14 years, low grade fever, RUQ pain, jaundice, increased liver size, ANOREXIA

A

Hep A

225
Q

If you suspect fulminant hepatitis, what tests should you order

A

PT/PTT, protime, serum ammonia, low serum glucose

226
Q

Does Hep A cause chronic hepatitis?

A

No

227
Q

What test do you order for Hep A?

A

antibody only, look at IgM

228
Q

Which hep has the longest incubation?

A

HepB

229
Q

Which hep can be spread horizonally

A

Hep B

230
Q

Pattern: arthritis, rash, arthalgyria, liver function impairment

A

Hep B

231
Q

Who can clear HepB virus - infected neonates or pt that acquire as adult?

A

Neonates will not clear

232
Q

Consequences with HepB chronic.

A

Chronic active hepatitis, cirrhosis, hepatocellular carcinoma

233
Q

Acute HepB serology

A

HB surface antigen, HBE antigen

234
Q

What is the only protective HepB antibody

A

HB surface antibody

235
Q

What is the serology for HepB patient who is clearing infection?

A

HB surface antigen not detectable, IgM HBcore high, no surface antibody yet - that is the window

236
Q

Which Hep is orally transmitted?

A

A/E (vowels)

237
Q

Which Hep is blood transmitted?

A

B/C (consonant)

238
Q

Pattern: acute disease asymptomatic, chronic hepatitis

A

HepC

239
Q

Which 2 hep can cause cancer?

A

B/C (consonants)

240
Q

Is HepC viral antibody protective?

A

No

241
Q

Dx for Hep C

A

PCR antigen

242
Q

Rx Hep C

A

Interferon and ribavirin

243
Q

Pattern: pt with hepB, eastern european, mediterranean

A

Hep D

244
Q

Dx HepD

A

IgM to HepD

245
Q

Pattern: teenager with HepE during pregnancy

A

fulminant liver failure

246
Q

Pattern: child with liver AND spleen enlarged, adenopathy, jaundice and other hep signs

A

EBV virus

247
Q

Which viruses tend to cause acute hep in immunocompromised children?

A

CMV, herpes, varicella

248
Q

Drugs that can cause acute hepatitis

A

acetaminophen, INH, valproate, MTX, 6MP, halothane

249
Q

What is characteristic lab work pattern in child with acetaminophen overdose?

A

Elevated AST/ALT, no hyperbili, increased PT/INR, increased ammonia

250
Q

Rx for drug toxicity acute hepatitis?

A

N-acetyl cysteine

251
Q

Mushroom - red cap with white spots

A

amanita phalloides

252
Q

What combination of drug and infection can lead to Reye and Reye-like syndromes?

A

aspirin and varicella

253
Q

What industrial toxins can cause acute hep

A

glue sniffing, polyvinyl alcohol, CCL4

254
Q

Which Heps can cause chronic hep?

A

HepB/C

255
Q

Rx of chronic hep?

A

Fluid and sodium restrction, treatment of encephalopathy, transplatnation

256
Q

If you are suspicious of chronic hepatitis but bilirubin and/or AST/ALT are normal, what should you check?

A

PT, albumin

257
Q

Pattern: HB surface antigen positive, no HB surface antibody

A

Chronic HepB, no clearance

258
Q

Dose core antigen and antibody matter with HepC

A

Nope, it does nothing really

259
Q

What are signs of active replicating HepB?

A

HBeAg +/- DNA PCR

260
Q

Rx HepB chronic

A

Interferon and antiviral

261
Q

Time course of organ involvement in alpha-1 antitrypsin

A

Liver in childhood

Lung disease in childhood or adulthood

262
Q

Pattern: child with cirrhosis and variceal bleeding?

A

Alpha-1 antitrypsin deficiency

263
Q

when in childhood do you see cirrhosis and portal HTN in CF?

A

mid-childhood

264
Q

Rx hepatitis in CF

A

shunt procedure then transplant

265
Q

What organs accumulate cooper in Wilson’s

A

Liver, CNS, kidney, eye

266
Q

Dx Wilson

A

low serum copper, ceruloplasmin, high 24hr urine copper, liver copper on biopsy

267
Q

Pattern: acute fulminant hepatitis and hemolytic anemia

A

Wilson’s disease, liver accumulates, liver damage and die, copper released from dying cells and RBCs lyse

268
Q

Rx for Wilson’s

A

Penicillamine, trientene, transplantation

269
Q

Fulminant liver disease with tyrosinemia; what is the worst sequelae?

A

Hepatocellular carcinoma

270
Q

Rx tyrosinemia

A

NTBC - stops tyrosine degradation, can stop HCC risk

271
Q

Pattern: chronic hepatitis signs, jaudice, mainly cholestasis and really bad pruritus

A

Progressive familial intrahepatic cholestatic disease

272
Q

What is progressive familial intrahepatic holestatic disease

A

defect of bile acid metabolism/excretion

273
Q

Pattern: pt with short gut syndrome getting parenteral feeds, elevated liver enzymes

A

parenteral nutrition induced

push enteral, and omega 3 intralipid

274
Q

Pattern: child with arthryalgia, arthritis, IBD or DM, signs of chronic liver disease, serum protein highly elevated, but serum albumin is low

A

Hypergammaglobulinemia in autoimmune chronic hepatitis

275
Q

Rx for autoimmune

A

steroids, 6MP, azathioprine

276
Q

Pattern: Full-term infant with CONJUGATED hyperbilirubinemia w/in first 4 weeks of life

A

Biliary atresia

277
Q

Prog of baby with biliary atresia who does not get biliary drainage?

A

Death within 1-2 years of life

278
Q

All jaundice baby should get what test?

A

Total bili and direct to look for hyper conjugate bili for biliary atresia workup

279
Q

When does Kasai procedure need to be done?

A
280
Q

Pattern: biliary atresia baby with Kasai, but now having recurrent cholangitis, jaundice, portal HTN, cirrhosis

A

failing biliary drainage

281
Q

Pattern: pulmonary stenosis, short stature, triangular facies, butterfly vertebrate, jaundice, xanthromas, pruritus

A

Alagille

282
Q

Pruritus should make you think of what

A

Alagille (paucity of intrahepatic bile ducts) or familial intrahepatic cholestatic disease

283
Q

Pattern: female, school-aged, abdominal mass, RUQ pain, intermittent jaundice and fever

A

Choledochal cyst

284
Q

What is sclerosing cholangitis?

A

chronic inflammation causing focal areas of fibrotic narrowing and dilation of the intra and extrahepatic bile ducts

285
Q

Liver problems associated with UC

A

Autoimmune chronic hepattitis and primary sclerosing cholangitis

286
Q

Pt with primary sclerosing cholangitis, what can you tell parents who don’t want to treat?

A

end-stage liver disease and cholangiocarcinoma can develop

287
Q

Pattern: pt with Langerhan’s cell histiocytosis and signs of liver problem

A

secondary sclerosing cholangitis

288
Q

Sequelae of frequent cholelithiasis

A

cholangitis, intrahepatic abscesses, pancreatitis

289
Q

pattern: hi alk phos and GGT and intermittent abdominal pain

A

cholithiasis

290
Q

Rx of cholelithisis

A

ursodeoxycholic acid, removal

291
Q

Pattern: female, colicky, RUQ pain referred to right scapula, fever, jaundice, increased bili and alk P

A

cholecystitis

292
Q

What supervening bacterial infection can be seen with cholecystitis?

A

E.coli, enterococcus

293
Q

Pattern: pt has no stones, salmonella/shigella prior

A

non-calculus cholecystitis

294
Q

Pattern: epigastric pain with vomiting, increased amylase and lipase, enlarged pancreas on imaging of abdomen

A

pancreatitis

295
Q

Why pancreatitis could lead to jaundice?

A

Swollen pancreas pushes on 2nd or 3rd part of duodenum and compresses segment that common bile duct and pancreatitic duct enters jointly as ampulla of vater

296
Q

What is location of liver cancer that causes jaundice?

A

Porta hepatis

297
Q

Which liver cancer is common in children

A

hepatoblastoma

298
Q

Pattern: jaundice, abscess

A

amoebic abscess,

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