Hereditary Hyperbilirubinemias

Question 1

Gilbert Syndrome

Answer 1

Mild dec UDP-glucouronosyltransferase conjugation and mild dec bilirubin uptake into liver

Common and usually asymptomatic unless stress - then inc unconjugated form

Question 2

Crigler-Najjar Syndrome Type 1

Answer 2

Complete absence of UDP-glucouronosyltransferase

Type II less severe - give phenobarbital to inc enzyme synthesis in liver

Usually die early (kernicterus); inc unconjugated form

Question 3

Dubin-Johnson

Answer 3

Defective liver excretion –> inc CONJUGATED bilirubin

Benign but liver is grossly black (b/c epi metabolites in lysosomes)

Question 4

Rotor Syndrome

Answer 4

Milder defect in excretion

Inc CONJUGATED form but less severe and no black liver