Inherited causes of jaundice

There are 4 inherited causes of jaundice you need to be aware of: Gilbert's syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome and Rotor's syndrome. It is important for the exam to be able to classify them according to whether they cause conjugated or unconjugated hyperbilirubinaemia:


Important points for the exam:

Gilbert's syndrome

• autosomal recessive
• UDP-glucuronyl transferase deficiency causing defective conjugation
• benign

Crigler-Najjar syndrome, type 1

• autosomal recessive
• absolute deficiency of UDP-glucuronosyl transferase
• do not survive to adulthood

Crigler-Najjar syndrome, type 2

• slightly more common than type 1 and less severe
• may improve with phenobarbital

Dubin-Johnson syndrome

• autosomal recessive. Relatively common in Iranian Jews
• mutation in the canalicular multidrug resistance protein 2 (MRP2) results in defective hepatic excretion of bilirubin
• results in a grossly black liver
• benign

Rotor syndrome

• autosomal recessive
• defect in the hepatic uptake and storage of bilirubin
• benign