15: Genetic Disorders Of The GI Tract

Question 1

Kernicterus

Answer 1

Bilirubin in brain -> deafness and poor mental progression -> if severe pt dies in a few years

Question 2

Two types of Crigler-Najjar

Answer 2

Type 1: severe jaundice and kernicterus due to totally absent UGT1A
Type 2: Arias syndrome, less severe, due to mutation in UGT1A coding region

Question 3

Rifampin test for Gilbert’s syndrome

Answer 3

Fast for 12-24 hours -> administer rifampin -> absolute increase in bilirubin about 2-6 hours after administration

Question 4

MRP2 stands for?

Answer 4

Multi-drug resistant associated protein 2

Question 5

What is MRP2?

Answer 5

An ABC transporter (ATP-binding cassette)

Question 6

What causes black liver in Dubin-Johnson syndrome?

Answer 6

Deposition of pigment in liver + impaired excretion of epinephrine metabolites

Question 7

What are OATP1B1 and OATP1B3?

Answer 7

Hepatic uptake transporters

Question 8

Two locations ATP7B is found

Answer 8

Trans-golgi network, hepatocytes

Question 9

Kayser-Fleischer rings

Answer 9

Copper rings around periphery of eye that is rarely seen in any other condition besides Wilson’s disease

Question 10

What is Wilson’s disease a risk for?

Answer 10

Cirrhosis, hepatitis, hepatocellular carcinoma, hemolytic anemia, Fanconi’s disease