Crigler-Najjar syndrome

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

References:

OMIM: Crigler-Najjar type 1. Available at http://omim.org/entry/218800?search=crigler%20najjar&highlight=najjar%20crigler 

OMIM: Crigler-Najjar type 2. Available at http://omim.org/entry/606785?search=crigler%20najjar&highlight=najjar%20crigler

Robards, C. and Brull, S. The anesthetic implications of Crigler-Najjar syndrome. Anesth Analg. 2007; 104(2): 435-436.

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