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[Crigler-Najjar type 1 in children].

Ugeskrift for Laeger 2013 October 15
Crigler-Najjar type 1 is a rare congenital disease caused by total lack of activity of bilirubin uridine diphosphate glucuronosyl transferase (UGT1A1) in the liver. The disease is characterised by a persistent severe unconjugated hyperbilirubinaemia. The primary treatment is phototherapy, with oral calcium phosphate as a possible supplementation. The effect of the treatment decreases by age, and if the phototherapy is insufficient the patient will need a liver transplantation. Hepatocyte transplantation has been tried with transient success. The risk of chronic bilirubin encephalopathy is considerable.

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