Crigler-Najjar syndrome

  • Facts:
    Rare, autosomal recessive disease
    Characterized by significant unconjugated hyperbilirubinemia
  • History / PE:
    Type 1
    Severe jaundice, neurologic impairment (kernicterus)
    Indirect bilirubin levels typically 20-25mg/dL, can rise as high as 50mg/dL
    IV phenobarbital fails to reduce bilirubin levels

    Type 2
    Milder disorder, no kernicterus, or neuro impairment
    Indirect bilirublin levels typically < 20mg/dL
  • Treatment:
    Phototherapy, plasmapherisis (short term)
    Liver transplant (type 2 long term cure)
  • See Also:
    Isolated hyperbilirubinemia



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July 25th 2010