Misc GI and lIver Flashcards
Jaundice
hyperbilirubinemia
Conjugated bilirubin=
Direct
Inconjugated bilirubin=
Indirect
Conjugated levels are high in what conditions?
Obstruction, Hepatitis, Dubin Johnson
Unconjugated levels are high in?
Hemolysis, Hepatitis, Gilbert
Jaundice is so common in neonates that it is considered physiologic. Why?
Because the liver machinery is not fully mature until 2 weeks old. Thats when it can start conjugating and excreting billirubin
Saw this in a robbins question
Biliary atresia is
a progressive inflammatory and fibrosing disease of extrahepatic bile ducts. With gradually complete obstruction of bile flow caused by destruction of extrahepatic ducts.
Alagille syndrome
Syndromic paucity of intrahepatic bile ducts.
Alagille Syndrome Causes neonatal jaundice, pruritis, and cholestasis
ok
Alagille Syndrome mutation?
Jagged 1 gene ligand for NOTCH 1
Dubin Johnson syndrome
Hereditary conjugated hyperbilirubinemia
- defective excretion of bilirubin conjugates and other organic anions across hepatocyte canalicular membrane. Leads to grossly black liver due to defective liver excretion.
Gilbert syndromw
Auto recessive deficiency of UGT (UDP Glucuronyl transferase) enzyme that uptakes and conjugates billirubin. You end up with a bunch of unconjugated billirubin without over hemolysis, It is asymptomatic.
Actually these pts have higher bilirubin levels than average which corresponds to lower cancer and atherosclerotic heart dz mortality
Cholangitis =
Inflammation of the biliary tree often with infection.
What is almost always the cause of cholangitts
Choledocholithiasis (blockage of the common bile duct) complicated by bacterial infection of the normally sterile biliary lumen
Ascending cholangitis
Infection of the intrahepatic biliary ducts
Ascending cholangitis symptoms
fever, chills, abdominal pain, jaundice
Ascending cholangitis pathology
Purulent bile fills and distends the bile ducts. You can get liver abscess formation.
High Direct Bilirubin diseases
Heps playing COD
Hepatitis, Conjugated, Obstruction, Dubin- Johnson
High Unconjugated Bilirubin
Uhhg
Unconj….. hep, hemolysis, Gilbert
Babies suffering from Biliary atresia typically become jaundiced when
3-6 weeks
Conjugated or unconjugated hyperbilirubinemia in biliary atresia?
Conjugated
What will be disporportionately high in biliary atresia?
GGT
ALT and AST will be moderately high
Primary Biliary Cirrhosis
Autoimmune disease seen most often in late- middle aged women
Presentation of PBC?
Pruritis, fatigue, hepatomegally, elevated alk phos
PBC associated with what antibodies
anti-mitochondrial
What is primary sclerosing cholangitis
Probably autoimmune. Fibrosis develops in the intra and extra-hepatic bile ducts
Onion skinning fibrosis of the bile ducts
Primary sclerosing cholangitis
Tyrosinemia produces what type of urine odor
Boiled cabbage
Phenylketonuria
musty
Trimethylaminuria
fishy
Isovalaric acidemia
sweaty feet
maple syrup urine diese
maple syrup
What is the deficiency in Tyrosinemia
fumaryl-aceto acetase
They can’t metabolize tyrosine with this deficieny and the back-up of toxic prodducts hurts the kidneys and liver.
Tyrosinemia present in what ethnicity
French canadians (100%)
Dx of tyrosinemia
urine test for succinylacetone
Classic presentation of tyrosinemia
failure to thrive, vomitting, diarrhea (bloody), jaundice, coma, death
Most common urea cycle deficiency is
Ornithine transcarbamylase
What happens with OTC
Pts are normal at birth but develop the disease at the first sign of protein. They develop irritability, poor feeding, vomiting, lethargy, coma and respiratory arrest due to HYPERAMMONEMIA
DX of OTC
Blood and urine amino acid test
Gaucher disease is a deficiency of what
beta- glucocerebrosidase
What is the most common lysosomal storage disorder?
Gaucher
WHo gets Gaucher
Jews get Gaucher, auto recessive
Most common sign of gaucher
splenomegally, then pancytopenia and bone pain
Von Gierke
Lack of Glucose 6 Phosphatase
Decreased glucose production and accumulation of glycogen in the liver, kidney, and intestine
Seen with marked hypoglycemia and hepatomegally in the first year of life
Porphyrias
errors in enzymes in heme synthesis
two subtypes of porphyrias
acute and cutaneous
Cutanous most common….onset at age 20, skin vesicles and bullae with sun exposure, attributed to the formation of ROS fromporphyrin componds
Pyloric stenosis
3-6 week old baby, post-prandial vomitting, demands to be fed agian right after vomitting
