Misc GI and lIver

Question 1

Jaundice

Answer 1

hyperbilirubinemia

Question 2

Conjugated bilirubin=

Answer 2

Direct

Question 3

Inconjugated bilirubin=

Answer 3

Indirect

Question 4

Conjugated levels are high in what conditions?

Answer 4

Obstruction, Hepatitis, Dubin Johnson

Question 5

Unconjugated levels are high in?

Answer 5

Hemolysis, Hepatitis, Gilbert

Question 6

Jaundice is so common in neonates that it is considered physiologic. Why?

Answer 6

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

Question 7

Biliary atresia is

Answer 7

a progressive inflammatory and fibrosing disease of extrahepatic bile ducts. With gradually complete obstruction of bile flow caused by destruction of extrahepatic ducts.

Question 8

Alagille syndrome

Answer 8

Syndromic paucity of intrahepatic bile ducts.

Question 9

Alagille Syndrome Causes neonatal jaundice, pruritis, and cholestasis

Answer 9

ok

Question 10

Alagille Syndrome mutation?

Answer 10

Jagged 1 gene ligand for NOTCH 1

Question 11

Dubin Johnson syndrome

Answer 11

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.

Question 12

Gilbert syndromw

Answer 12

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

Question 13

Cholangitis =

Answer 13

Inflammation of the biliary tree often with infection.

Question 14

What is almost always the cause of cholangitts

Answer 14

Choledocholithiasis (blockage of the common bile duct) complicated by bacterial infection of the normally sterile biliary lumen

Question 15

Ascending cholangitis

Answer 15

Infection of the intrahepatic biliary ducts

Question 16

Ascending cholangitis symptoms

Answer 16

fever, chills, abdominal pain, jaundice

Question 17

Ascending cholangitis pathology

Answer 17

Purulent bile fills and distends the bile ducts. You can get liver abscess formation.

Question 18

High Direct Bilirubin diseases

Answer 18

Heps playing COD

Hepatitis, Conjugated, Obstruction, Dubin- Johnson

Question 19

High Unconjugated Bilirubin

Answer 19

Uhhg

Unconj….. hep, hemolysis, Gilbert

Question 20

Babies suffering from Biliary atresia typically become jaundiced when

Answer 20

3-6 weeks

Question 21

Conjugated or unconjugated hyperbilirubinemia in biliary atresia?

Answer 21

Conjugated

Question 22

What will be disporportionately high in biliary atresia?

Answer 22

GGT

ALT and AST will be moderately high

Question 23

Primary Biliary Cirrhosis

Answer 23

Autoimmune disease seen most often in late- middle aged women

Question 24

Presentation of PBC?

Answer 24

Pruritis, fatigue, hepatomegally, elevated alk phos

Question 25

PBC associated with what antibodies

Answer 25

anti-mitochondrial

Question 26

What is primary sclerosing cholangitis

Answer 26

Probably autoimmune. Fibrosis develops in the intra and extra-hepatic bile ducts

Question 27

Onion skinning fibrosis of the bile ducts

Answer 27

Primary sclerosing cholangitis

Question 28

Tyrosinemia produces what type of urine odor

Answer 28

Boiled cabbage

Question 29

Phenylketonuria

Answer 29

musty

Question 30

Trimethylaminuria

Answer 30

fishy

Question 31

Isovalaric acidemia

Answer 31

sweaty feet

Question 32

maple syrup urine diese

Answer 32

maple syrup

Question 33

What is the deficiency in Tyrosinemia

Answer 33

fumaryl-aceto acetase

They can’t metabolize tyrosine with this deficieny and the back-up of toxic prodducts hurts the kidneys and liver.

Question 34

Tyrosinemia present in what ethnicity

Answer 34

French canadians (100%)

Question 35

Dx of tyrosinemia

Answer 35

urine test for succinylacetone

Question 36

Classic presentation of tyrosinemia

Answer 36

failure to thrive, vomitting, diarrhea (bloody), jaundice, coma, death

Question 37

Most common urea cycle deficiency is

Answer 37

Ornithine transcarbamylase

Question 38

What happens with OTC

Answer 38

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

Question 39

DX of OTC

Answer 39

Blood and urine amino acid test

Question 40

Gaucher disease is a deficiency of what

Answer 40

beta- glucocerebrosidase

Question 41

What is the most common lysosomal storage disorder?

Answer 41

Gaucher

Question 42

WHo gets Gaucher

Answer 42

Jews get Gaucher, auto recessive

Question 43

Most common sign of gaucher

Answer 43

splenomegally, then pancytopenia and bone pain

Question 44

Von Gierke

Answer 44

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

Question 45

Porphyrias

Answer 45

errors in enzymes in heme synthesis

Question 46

two subtypes of porphyrias

Answer 46

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

Question 47

Pyloric stenosis

Answer 47

3-6 week old baby, post-prandial vomitting, demands to be fed agian right after vomitting