GI

Question 1

Gilbert’s syndrome

Answer 1

Benign disorder of bilirubin conjugation. Slight increase in unconjugated bilirubin when ill (<6). Autosomal recessive condition resulting from a mutation in the UGT-1 gene that impairs the functioning of the enzyme UDP-glucuronyl transferase

Question 2

Crigler-Najjar

Answer 2

Crigler-Najjar syndrome (types I and II) is an extremely rare, autosomal recessive condition caused by absent (type I) or limited (type II) UDP-glucuronyl transferase activity. The disorder generally presents in the first few days after birth. In type I disease, serum unconjugated bilirubin values of 25 to 35 mg/dL (425 to 600 mcmol/L) or higher are common, and infants are at high risk of developing kernicterus unless aggressive phototherapy is initiated early. Treatment with phenobarbital, an inducer of the partially active UDP-glucuronyl transferase enzyme

Question 3

Dubin Johnson

Answer 3

Defect in hepatocellular excretion of conjugated bilirubin. Characteristic findings include elevations in the direct-reacting (conjugated) bilirubin fraction but without other evidence of cholestasis or hepatic dysfunction