GI/Nutrition Flashcards
Findings in essential FA deficiency
scaly dermatitis, alopecia, thrombocyopenia
Bitot’s spots
Keratin accumulation on the sclear in Vit A deficiency
Findings in Vitamin E deficiency
Hemolytic anemia, retinal degeneration, progressive neurological deterioration
Selenium deficiency
Dilated cardiomyopahty
Folate deficiency
Hypersegmented neutrophils, macrocytic anemia
Scurvy
Hemorrhage, hemolytic anemia, hysteria
Zinc deficiency
Diminished taste acuity, hypogonadism, short stature
Copper deficiency
Anemia, neutropenia, FTT, skeletal abnormalities
Thiamine deficiency
B1
Beriberi - high output cardiomyopathy, polyneuritis, laryngeal paralysis
Riboflavin deficiency
B2
Angular stomatitis, glossitis, seborrheic dermatitis around the nose and scrotum
Niacin deficiency
B3
Pellegra - dermatitis, diarrhea, dementia, weakness
Pyridoxine deficiency
B6
Stomatatis, glossitis, irritability, confusion
Children - seizures
Adolescents - periphearl neuropathy
B12 defeciency
Macrocytic anemia, atrophic glossitis, neuropathy
Breastfed infants of vegan mothers are at risk for what vitamin deficiency?
B12
Diagnosis of lactose intolerance
lactose breath test
Acquired causes of lactose intolerance
Rotavirus, celiac, IBD, PI
More common in children < 5 yo
Sentinel loop on AXR
pancreatitis
Types of gallstones
Black - younger children, hemolytic disease
Cholesterol - adolescents
Types of stool softeners/laxatives
Bulking - psyllium, fiber Softener - ducosate Osmotic - polyethylene glycol, lactulose Lubicrants - glycerin Stimulant - senna, sennosides
Zollinger-Ellison syndrome
Gastrin secreting tumor of the pacreas
Associated with MEN1
Most common type of choledocal cyst
Type 1 (dilation of common bile duct)
Age range for intussusception
6-36 months
Crohn’s disease genetics
NOD2/CARD15 mutations
Indication for Hep A Ig
Acute exposure, common source outbreaks (ie daycare)
Indication for Hep B Ig
Neonates w/ Hep B + mothers, acute exposure, HBsAg negative individual with Hep B + needle stick
Causes of chronic hepatitis
Hep B (50% of children, 90% of infants), Hep C (50-80%)
Most common infectious cause of acute liver failure
Hep C infection
Management of asymptomatic esophageal foreign body
repeat film in 12-24 hours; still esophageal –> endoscopy
Management of asymptomatic gastric foreign body
repeat film in 3-6 weeks
Management of ingestion of sharp objects
Endoscopy unless single straight pin
Jackson’s axiom - advancing points perforate
Complications of caustic injurgy
Strictures (80% develop w/in 8 weeks), increased risk of esophageal carcinoma
Examples of acid ingestions
drain cleaner, toilet bowl cleaner, tile cleaner
Exampels of alkali ingestions
Lye, oven cleaner, dishwashing detergent
Crigler-Najjar defect
UDPGT
Crigler-Najjar treatment
phenobarbital (works in type 2)
Crigler-Najjar presentation
sever indirect hyperbilirubinemia
Crigler-Najjar genetics
AR
Anomalies associated with biliary atresia
CV defects, polysplenia, malrotation, portal vein anomalies
Biliary atresia diagnosis
HIDA scan, biopsy
Alagille syndrome genetics
AD
JAG-1 or NOTCH-2 mutation
Alagille syndrome findings
chronic cholestasis, peripheral pulmonic stenosis, butterfly vertebae, Schwalbe line of eye (increased risk of glaucoma), dysmorphic facies (triangular, deep set eyes)
Dubin-Johnson syndrome genetics
AR
Dubin-Johnson syndrome defect
exretion of conjugated bilirubin from hepatocyte apical membrane
Celiac disease genetic susceptibility
HLA-DQ2, DQ8
Celiac skin manifestation
Dermatisis herpetiformis
Celiac disease associations
Type 1 DM, T21, hypothyroidism, T-cell lymphoma of GI tract
GI disease in CF
pancreatic insufficiency, meconium ilues, distal intestinal obstruction syndrome (DIOS), rectal prolapse, CFRLD, late hemorrhagic disease of newborn
Pancreatic enzyme supplementation
5K to 10K U/kg of lipase
> 20 K U/kg associated with fibrosing colonopathy
Eosinophilic esophagitis symptoms
dysphagia, food impaction
Eosinophilic esophagitis treatment
swallowed fluticasone/budesonide, elemental diet, IL-5 Ab
Predisposing conditions for cholelithiasis
SCD, HS, obesity, hyperlipidemia, pregnancy, CF, TPN, ileal disease, meds (LASIK, ctx, ocp’s)
Acute intermittent porphyria genetics
AD - only 10-15% gene carriers have symptoms
Acute intermittent porphyria symptoms
Abdominal pain, neurological (weakness, confusion, sz) and psych (hallucinations)
Acute intermittent porphyria defect
Porphobilinogen deaminase
Most common viral hepatitis is the US
Hep A
Group likely to be a symptomatic from Hep A
Children < 3 yo
Diagnosis of Hep B long term carrier state
HBsAg + for > 6 months
Hep B vs. Hep A presentation
Hep B - symptoms and fulminant hepatitis more likely
Rate of chronic dz in Hep B
50% in children
90% in infants w/ vertical transmission
Hep D requirement
Hep B infection
Hep B treatment
Interferon gamma
Rate of vertical transmission in Hep C
4-6%
Increased with HIV or high titers
Hep C treatment
Interferon gamma and ribavirin
Patients with Hep C and best response to treatment
Low HCV RNA, high LFTs, no cirrhosis, no HIV, genotype 2/3
Transmission of Hep E
Fecal-oral
Highest rate of mortality for Hep E
Pregnant woman (20%)
Rate of esophageal pathology in patients with meat impaction
95%
Gilbert syndrome genetics
AD - incomplete penetrance
Most common cause of neonatal cholestsis
Idiopathic hepatitis (biliary atresia = #2)
Alpha 1 antitrypsin deficiency genetics
AR
Vitamin K dependent clotting factors
2, 7, 9, 10
Most common congenital GI anomaly
Meckel diverticula (1-4%)
Chronic nonspecific diarrhea
Toddler’s diarrhea - 12-40 months
Presence of vegetable matter
Secondary to fructose and fluid overload
RDA of Ca
1300 mg (same for phosporus)
Diagnosis of HCV
Hep C NAAT at 2 months (or serologies at 18 months)
Screening for juvenile polyposis syndrome
Yearly colonoscopy
Mercury intoxication
painful hands/feet, pink skin rash
Vitamin A toxicity
headache, pseudotumor cerebri, hepatomegaly, dry mucus membranes
Vitamin C toxicity
renal stones (hyperoxaluria)
