Crigler-Najjar syndrome is a rare cause of hereditary hyperbilinaemia
There are 2 types:
- Crigler-Najjar type 1
- Autosomal recessive
- Complete absence of UDP-glucuronosyltransferase
- Severe hyperbilinaemia
- Crigler-Najjar type 2
- Autosomal recessive
- Decreased activity of UDP-glucuronosyltransferase
- Less severe hyperbilinaemia
Management:
- Type 1: phototherapy, liver transplantation. Does not respond to phenobarbitone treatment.
- Type 2: phenobarbitone drug therapy
Prognosis:
- Type 1: unlikely to reach adulthood
- Type 2: good prognosis
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