Gastroenterology Flashcards
Liver failure after introduction of juices
Fructosemia
Reducing substances in urine
Galactosemia
Succinylacetone in urine
Tyrosinemia
Antibody that appears early and then fades off
IgM
Positive HB surface antigen +/- positive HB envelope antigen
Acute Hep B infection
Positive HB surface antibody
Previous Hep B infection
May be the only positive marker in a patient infected with Hep B who is going to clear the virus but has not yet developed the protective antibody (anti-Hep B surface antigen)
IgM anti-Hep B core antibody
Occurs only with co-infection with hepatitis B
Delta Hepatitis
Type of hepatitis associated with fetal loss and higher risk of fulminant liver failure in pregnant woman
Hepatitis E
TB drug that can cause acute hepatitis
INH
Anticonvulsant that can cause acute hepatitis
Valproate
Tx for acetaminophen OD
N-acetyl cysteine
Most common mushroom to cause acute hepatitis
Amanita phalloides
Negative Hep B surface antibody
Hep B chronic carrier state
Indicates active Hep B replication
Positive Hep B envelope antigen
Low serum copper and ceruloplasmin. Elevated 24 hr urine copper and liver copper content
Wilson’s disease
Kayser-Fleischer rings
Wilson’s disease
Conjugated hyperbilirubinemia in first 4 weeks of life (MUST evaluate any baby jaundiced beyond two weeks of life)
Biliary atresia
Paucity of the intrahepatic bile ducts
Alagille’s syndrome
Syndrome associated with congenital heart disease (especially pulmonary stenosis), short statute, triangular facies, butterfly vertebrae, xanthomas
Alagille’s syndrome
Most common infections in calculus cholecystitis
E. Coli & enterococcus
85 to 90% of kids with this will have a soy allergy
Cows milk allergy
If fructose to glucose ratio is increased, there is a higher chance of developing
Watery diarrhea
Present in fruit juices, excessive consumption causes diarrhea
Sorbitol
The HLA class 1 molecule associated with Celiac
B8
The HLA class II molecules associated with celiac
DR3 and DR7
Foamy macrophages, caused by tropherma whipplii
Whipple’s Disease
Pancreatic insufficiency from deficiency in pancreatic enzyme production + bone marrow failure, cyclic neutropenia
Schwachman-Diamond Syndrome
Of the three, which has greatest likelihood of steatorrhea:
1) cystic fibrosis
2) celiac sprue
3) Schwachman Diamond
Cystic fibrosis
1) absence of ganglion cells
2) hypertrophied nerve fibers
Hirschsprungs Disease
% body water in infants
70 to 75%
% body water in young adults
50 to 60%
Basal energy needs are most accurately calculated by:
Body surface area
Premature infants who receive inadequate linoleic acid are at high risk for what? (E.g children receiving long term TPN but no lipids)
Essential fatty acid deficiency
60% whey, 40% casein
Mature breast milk
40% whey, 60% casein
Cow’s milk formula
Best formula to use in premature infants
One containing medium chain triglycerides (preterm infants have decreased amount of intraluminal bile acids and decreased absorption of LCFA and fat soluble vitamins)
Vitamin deficiency that causes macrocytic anemia (hyper segmented neutrophils) and CNS changes
B12 deficiency
Breast fed infants of vegan mothers are at high risk for
Cyanocobalamin deficiency
Patients a/p distal small bowel resection are at increased risk for what deficiency
B12 (it is absorbed in the illeum)
Goat’s milk is deficient in?
Folate
Methotrexate impairs the absorption of
Folate
Vitamin K dependent coagulation factors
2, 7, 9, 10, protein C & S
Syndrome with:
- Enlargement of costochondral junctions
- Widening of epiphyses
- Thickening of wrists
- Chostochondral beading
- Bowing of long bones
- Softening of skull (craniotabes)
Rickets
- dry skin
- alopecia
- carotenemia
Vitamin A Toxicity
Paresthesias, foot and wrist drop, Wernicke encephalopathy (opthalmaplegia, ataxia, confusion)
Beriberi (Thiamin/B1 deficiency)
Cheilosis, sore tongue
Riboflavin B2 deficiency
Pellagra - dermatitis, dementia, diarrhea
Niacin B3 deficiency
Seizures
Pyridoxine B6 deficiency
Megaloblastic anemia
Cobalamin B12 and folate deficiency
Scurvy
Vitamin C deficiency
Neural tube defects
B12 deficiency
Spina bifida
Folate deficiency
Painful brittle bones, loose teeth, bleeding gums
Vitamin C deficiency (needed for collagen, affects vessels and bone junctions)
Decreased reflexes, weakness, limited ability to look upward
Vitamin E deficiency
Hemolysis, reticulocytes, nerve signs
Vitamin E deficiency
Vitamin K is necessary for which factors
2, 7, 9, 10
Measures extrinsic pathway (factor VII)
Pat
Night blindness, immune dysfunction
Vitamin A deficiency
Scaly skin, pseudotumor cerebri, hepatomegaly
Vitamin A excess
Macrocephaly, pigemented penile lesions, hamartomatous polyps
Ruvalcaba Myhre Smith
STK11 gene, hamartomatous polyps, mucho cutaneous hyper pigmentation, associated with other cancers
Peutz Jeghers
Rectal prolapse can be associated with which disorder
CF
Pancreatic insufficiency, AR, skeletal abnormalities, neutropenia
Shwachman Diamond
Arteriohepatic dysplasia
Alagille Syndrome
AD, paucity of bile ducts, triangular face, peripheral pulmonary stenosis, posterior embryotoxon in eyes, butterfly vertebrae
Alagille Syndrome
Requires coexistent Hep B infection
Hepatitis D
20% fatality rate from this fulminate hepatitis in third trimester of pregnancy
Hepatitis E
Jaundice when ill, defect in promoter for UDP-GT (which conjugated bilirubin) so less enzyme is made to conjugate with. Result = increased level of indirect bili. No tx needed.
Gilbert Syndrome
Complete absence of UDP-GT so they don’t make any conjugated bilirubin. Tx: lifetime PTX or liver transplant
Crigler Najjar Type 1
Defect in gene for conjugated bilirubin transporter resulting in mild conjugated hyper bili, no hepatocyte injury
Dubin Johnson
Partial activity of UDP-GT, does not require therapy
Crigler Najjar Syndrome Type 2
Disease of copper accumulation
Wilson Disease
Kayseri Fleischer rings, liver disease, hemolysis, psych illness, behavior changes
Wilson Disease
Tx: penicillamine
Wilson Disease
Oral contraceptives associated with hepatic vein thrombosis and liver tumors
Buds Chiari Syndrome
AR, liver disease in Norwegian newborns, severe cholestasis with lower extremity lymphedema
Aagenaes Syndrome
Jaundice at one month of life, clay colored stools, dark urine, no gallbladder on ultrasound
Biliary atresia
Definitive test for biliary atresia
Intraoperative cholangiogram
Tx for biliary atresia
Kasai procedure
Gallbladder hydrops seen in:
Kawasaki Strep pharyngitis Prolonged fasting TPN HSP
Second most common cause of exocrine pancreatic insufficiency (after CF)
Schwachman Diamond syndrome. AR