GI Diseases Flashcards by Danielle Dilday

What are the common signs and symptoms of gastrointestinal issues in infants and children?

Obvious:
* Vomiting
* Diarrhea
* Constipation
* Abdominal pain
* Weight loss
* Fever

Less obvious:
* Abdominal distension
* Organomegaly
* Skin discoloration
* Crankiness/inconsolable
* Lethargy
* Looks sickly
* Weight loss/FTT

FTT stands for Failure to Thrive.

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What should be considered if an infant presents with bilious vomiting?

Possible obstruction

Green or dark green vomit indicates a need for urgent evaluation.

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What are the characteristics of gastroschisis?

Herniation of uncovered bowel through the abdominal wall 2-3 cm lateral to the umbilicus
* Associated with bowel necrosis

Differentiates from omphalocele, where contents are covered.

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What is the primary treatment for pyloric stenosis?

Surgical (pyloromyotomy)

Also known as Ramstedt’s procedure.

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What is the significance of meconium passage in newborns?

95% pass meconium after 24 hours; if not, suspect obstruction after 24-36 hours and must work up after 48 hours

Conditions like anal atresia and Hirschsprung disease should be considered.

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What is the initial management for necrotizing enterocolitis (NEC)?

STOP FEEDS! Consult surgeon

Diagnosis often involves x-ray showing pneumatosis intestinalis.

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What are the symptoms of biliary atresia?

Presentation:
* Acholic stool
* Persistent jaundice
* ↑ ↑ GGT
* ↑ direct bilirubin

Requires Kasai procedure for treatment.

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What is the diagnostic approach for intussusception in a lethargic child?

Ultrasound
* Air (pneumatic) enema - diagnostic and therapeutic

May palpate a sausage-like mass in RUQ or epigastrium.

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Fill in the blank: The most common variant of tracheoesophageal fistula is _______.

esophageal atresia with distal TEF

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True or False: The presence of respiratory issues should be considered when assessing abdominal pain in children.

True

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What are the possible causes of vomiting in pediatric patients?

Possible causes include:
* Reflux
* Obstruction
* Infection
* Allergic reactions
* Metabolic issues
* Respiratory conditions
* Toxic ingestions
* Neurologic conditions
* Cardiac issues

Each age group may have a different differential diagnosis.

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What are some signs indicating potential surgical or emergent issues in children with abdominal pain?

Signs include:
* Rebound tenderness
* Pain with jumping
* Child does not want to move

Abdominal pain can present differently in young children.

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What are the common symptoms associated with milk protein allergy in infants?

Symptoms include:
* Diarrhea
* Blood in stool
* Colic/gassy/fussy
* Poor weight gain/FTT

Less common in breastfed infants; formula-fed infants may require hydrolyzed amino acid-based formulas.

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What is the recommended follow-up for a pediatric patient presenting with gastrointestinal symptoms?

Frequent follow-ups to monitor progress

Important to measure and plot weight gain and height.

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What is Hirschsprung disease characterized by?

Aganglionic distal colon leading to failure to relax
* Complication: enterocolitis

Diagnosis involves rectal suction biopsy.

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What is a common finding in intussusception?

Currant jelly (bloody) stools

Late finding in cases of intussusception

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Which type of intussusception is the most common?

Ileocolic

This is the most frequently observed type of intussusception

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What imaging technique is used for diagnosing intussusception?

Ultrasound

Air (pneumatic) enema can also be diagnostic and therapeutic

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What is the rule of 2s in relation to Meckel’s diverticulum?

2% population, 2 years, 2 feet from ileocecal valve, 2 inches, 2 types of mucosa, 2 males

A mnemonic to remember the characteristics of Meckel’s diverticulum

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What is a common symptom of Meckel’s diverticulum?

Painless rectal bleeding

This is a key symptom associated with Meckel’s diverticulum

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What is the recommended diagnostic test for Meckel’s diverticulum?

Meckel nuclear scan: Technetium-99 (99mTc)-pertechnetate

This scan helps identify the presence of Meckel’s diverticulum

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What stool consistency is indicative of constipation?

Hard, rabbit pellets

This type of stool is often associated with constipation in children

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Fill in the blank: Encopresis is _______.

soiling involuntarily

Encopresis may appear like diarrhea but involves involuntary soiling

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What are common treatments for functional constipation?

Gentle laxatives (e.g., Polyethylene glycol - MIRALAX)
Fiber
Toilet regimen
Clean out from bottom (glycerin suppository/enemas)

These methods help manage functional constipation in children

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What is a common infectious cause of diarrhea in children?

Viral infections (e.g., Rotavirus, adenovirus) ## Footnote These viruses are key contributors to infectious diarrhea

What characterizes toddler's diarrhea?

Intermittent diarrhea in a young child, no blood, and otherwise well ## Footnote Often linked to excessive juice or fruit intake

What is a key red flag in diagnosing diarrhea in infants?

Normal formula fed baby with blood in stool ## Footnote This may indicate a milk protein allergy, warranting a change to hydrolyzed formula

What condition presents with forceful vomiting in infants?

Pyloric stenosis ## Footnote Characterized by non-bilious vomiting and metabolic alkalosis

What is the difference between gastroschisis and omphalocele?

Gastroschisis involves bowel outside the body, while omphalocele involves bowel covered by a membrane ## Footnote Both are congenital abdominal wall defects

What are signs of appendicitis?

* No appetite * Pain periumbilical to RLQ * McBurney's point tenderness * Peritoneal signs ## Footnote These symptoms suggest possible appendicitis in children

What is a potential cause of meconium ileus in newborns?

Cystic fibrosis (CF) ## Footnote Meconium ileus is often associated with CF

What stool characteristic is associated with biliary atresia?

Acholic (white) stools ## Footnote This is due to a lack of bile reaching the intestines

What is a common side effect of antibiotic use that can lead to diarrhea?

C. difficile infection ## Footnote This infection can occur due to disruption of normal gut flora

What is the recommended management for chronic diarrhea lasting over 4 weeks?

Investigate underlying causes (IBD, malabsorption, immunodeficiency, etc.) ## Footnote Chronic diarrhea requires thorough evaluation for potential serious conditions

Define Penetrance in your own words.

proportion of affected individuals who actually expressed the assoc. phenotype

Define Variable Expressivity.

Individuals w/ the same genotype express different phenotypes

What is a de novo mutaiton?

1st generation mutation that is passed down through subsequent generations

What is the most common mutation of hereditary diffuse gastric cancer syndrome

E-cadherin (CDH-1) tumor suppressor gene

What is the qualitative definition of lifetime risk?

risk for developing a specific disease by the age of 80

what is the lifetime risk for HDGC in men & women?

men: 67% women: 83%

What is the most recommended medical management for pts. w/ Family Hx of HDGC?

prophylactic gastrectomy recommended b/t ages 18-40

What is an alternative medical management for CHD1 carriers who do not want a gastrectomy before age 40?

surveillance every 6-12 months by upper endoscopy w/ multiple random biopsies

What cancers are pts. w/ lynch syndrome at increased risk for w/ a MLH1 mutation?

colorectal endometrial ovarian

What cancers are higher lifetime risks for MSH2 & EPCAM carriers compared to MSH1 carriers for lynch syndrome?

Prostate; Bladder; Renal

Is the Lifetime risk of colorectal cancer for PMS2 carriers earlier or later onset compared to MSH1 carriers of lynch syndrome?

Later onset: 60-70 MSH1: 44-50

What is the most recommended medical management for lynch syndrome?

colonoscopy starting at 20-25 every 1-2 yrs.

what cancers are pts. w/ the Muir-Torre lynch variant at increased risk for?

sebaceous neoplasms & keratoacanthomas

Turcot syndrome is assoc. w/ brain tumors. Which kind of brain tumor is most commonly assoc. w/ FAP & Lynch syndrome?

FAP: medulloblastoma LS: glioblastoma

What is the most recommended medical management for FAP?

annual colonoscopies starting at age 10-15 upper endoscopy starting a 20

What mutations are assoc. w/ FAP

APC genes

What phenotypes are assoc. w/ the Gardner syndrome FAP varient?

mandible pathologies: osteomas, supernumerary teeth Other: desmoid tumors, sebaceous cysts, epidermoid cysts, fibromas, congenital hypertrophy of retinal pigment epithelium

What mutation is assoc. w/ Peutz-Jeghers Syndrome?

STK11 gene

What phenotypes are assoc. w/ PJ Syndrome?

mucocutaneous hyperpigmentation; benign polyps in mall bowel

At what age do pts. w/ Family Hx of PJ syndrome began getting upper endoscopyies

8-10 yrs. and no later than 18 yrs. of age

when should annual PEs for precocious puberty for PJ syndrome start?

8 yrs. of age for girls 10 yrs. of age for boys

What mutation is assoc. w/ Cowden syndrome?

PTEN gene

What phenotypes are assoc. w/ Cowden syndrome?

hamartomas on skin & mucous membranes lining the mouth & nose macrocephaly thyroid disease

What are the Qualifying criterias for operational diagnosis of Cowden Syndrome?

At least 3 major criteria: one MUST INCLUDE macrocephaly, lhemitte-doclose disease, or GI hamartomas OR 2 major & 3 minor criteria

What are the qualifying criterias for medical management for those who meet the criteria for PTEN mutation

at least 2 major criteria with or w/o minor OR one major & 2 minors OR 3 minors

List the major & minor criteria for Cowden syndrome

Major Criteria: Cancers: Breast, endometrial, & thyroid Pre-Malignant Lesions: GI hamartomas, multiple mucocutaneous lesions, oral papillomas, macular pigmented lesions Minor Criteria: Malignancies: Renal Cell carcinoma, Colon ASD Intellectual Disability Vascular anomalies lipomas/lipomatosis

What are the most commonly recommended medical managements for Cowden syndrome?

colonoscopies starting at age 35; gynecological neoplasm screenings starting at 18 years of age renal ultrasound at age 40 thyroid screening at 7 ys. of age

What mutations are assoc. w/ JPS

BMPR1A or SMAD4 in 50% of cases

What are the pathological consequences of a PRSS1 gene mutation?

Altered Trypsin resistant to breakdown by serine proteases causes pancreatitis

what are the pathological consequences of a SPINK1 mutation?

Defective trypsin inhibitor leaves trypsin activity unregulated PANCREATISIS

what medical advice concerning life-style changes can you give a pt. who is at higher risk for developing acute pancreatitis?

low-fat diet, multiple small meals instead of 3 big ones; maintain good hydration; avoid tobacco & alcohol use

What gene encodes an ATPase required for Cu transpiration out of hepatocytes?

ATP7B on Ch. 13

Pts. w/ Wilson Disease are at increased risk for hepatocellular carcinoma b/c Cu accumulation causes what?

build up of ROS which can damage DNA

what extrahepatic symptoms are assoc. w/ Wilson Disease?

Parkinsonism: chorea, dysarthria, dystonia, tremors, Basal nucleus deficits Kidneys: Fanconi syndrome

What drugs can be used for Chelation therapy of Wilson Disease medical management?

Penicillamine Trientine

What preventative measures can be taken to prevent copper reaccumulation

oral zinc: prevents copper reabsorption avoid foods w/ high Cu content: shellfish, nuts, mushrooms, organ meats

A mutation of what gene is assoc. w/ hemochromatosis?

HFE gene

what compound is used for Chelation therapy in hemochromatosis pts.

deferoxamine

What labs would you expect to be abnormal for hemochromatosis?

Elevated: Ferritin Iron Transferrin saturation Lowered: TIBC

what stain can be ordered for a liver biopsy from a pt. suspected of having hemochromatosis

Iron deposits: Prussian Blue Stain

List the Triad of symptoms for Bronze Diabetes

cirrhosis bronze skin' DM

what manifestations of COPD are most commonly assoc. w/ Alpha-1 antitrypsin deficinecy?

emphysema and bronchiectasis after 30 years of age panniculitis

What kind of protein is alpha-1 antitrypsin (AAT)

glycoprotein protease inhibitor

Compare & Contrast the different pathogenesis of AAT deficiency of the lung & liver

Lung: reduced inhibition of neutrophil elastase resulting in destruction of pulmonary elastin in the alveolar walls Liver: abnormal AAT alleles polymerize within hepatocytes precluding secretion; causes accumulation of abnormal AAT protein

what is the medical management for AAT deficiency

surveillance FUs every 6-12 months; abstain from smoking & alcohol use; Occupational Hazards: may need to take extra precautions

Augmentation therapy for AAT deficiency can be implemented if what has transpired?

emphysema

what agents can be used for AAT deficiency induced panniculitis

dapsone doxycycline

Milk Protein allergy is more common in what neonate population?

formula fed infants

Herniation of bowels can be detected prenatally via elevated serum levels of what?

AFP

unlike gastroschisis, omphalocele is assoc. w/ extraintestinal symptoms. List the most common ones

trisomies

What are PE findings of a congenital diaphragmatic hernia?

scaphoid abdomen; bowel sounds in chest; pulmonary hypoplasia

What is a long-term issue of diaphragmatic hernias

pulmonary issues

what is the medical management for diaphragmatic hernias?

STAT intubation & surgery

duodenal atresias are commonly assoc. w/ what trisomy?

Downs

what sign on an XR is assoc. w/ duodenal atresia

double bubble sign

what sign on an XR is assoc. w/ jejunal atresia

triple bubble sign

Intestinal artresias are assoc. w/ what in utero distress

ischemia/ischemic event

what is a common complication of hirschsprung's disease

enterocolitis

TEFs are assoc. w/ what in utero defect?

single artery umbilical cord

List the components of the VACTERL mnemonic for clinical manifestations of TEFs

vertebral (spinal defects) atresia anal cardiac TE fistulas Renal/Radial anomalies Limb anomalies

how is billiary atresia diagnosed

ultrasound hepatobiliary scintigraphy liver biopsy intraoperative cholangiogram

what metabolic disorder is assoc. w/ pyloric stenosis

hypochloremic hypokalemic metabolic alkalosis

what US sign is assoc. w/ pyloric stenosis

string sign in upper GI

what are the clinical presentations of sandifer syndrome

abnormal positioning, arching, & dystonia (can be mistaken for a seizure)

Making sure neonate sleeps on their back can prevent what

SIDS

What advice can be offered to parents w/ a neonate having GERD complications?

Reassurance it will most likely resolve with growth Sit up straight don't breastfeed at a fast pasase don't overfeed don't keep changing formula burping is fun things get better

what are red flags for functional constipation in ped pts.

child in apparent distress blood toilet clogging soiling underwear

What is the main cause of Toddler's Diarrhea?

too much non-digestible carbohydrates

what are red flags for diarrhea in ped pts.

weight loss poor weight gain bloody, fatty, mucous stools chronic (has persisted for at least 4 weeks)