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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:
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Abdelghafour

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Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)