Treatment for Crigler-Najjar Syndrome

Introduction to Treatment

The American Association for the Study of Liver Diseases recommends liver transplantation as the only definitive treatment for Crigler-Najjar syndrome type I, and referral for liver transplant evaluation should be considered at the time of diagnosis before the development of brain damage 1, 2

Crigler-Najjar syndrome results from deficiency of the hepatocyte enzyme uridine diphosphate glucuronosyl transferase (UGT1A1), leading to severe unconjugated hyperbilirubinemia 1
Type I (CNI) is characterized by complete enzyme deficiency, resulting in marked unconjugated hyperbilirubinemia that becomes apparent during the neonatal period 1

Initial treatment consists of exchange transfusions during the neonatal period to prevent kernicterus 1

Long-term management requires intensive phototherapy to prevent kernicterus 1, 2
Successful phototherapy requires maximal body irradiance for 20-24 hours per day during hyperbilirubinemic crises 1
Successful phototherapy requires a minimum of 8-12 hours every day to maintain acceptable bilirubin levels 1

Liver transplantation is the only definitive treatment for Crigler-Najjar syndrome type I 1, 2
Recommendations from guidelines suggest referral for liver transplant evaluation should be considered for CNI patients before the development of brain damage, ideally at the time of diagnosis 1, 2
Living-related liver transplantation (LRLT) can be performed successfully 3
For heterozygote donors (e.g., parents), LRLT has been successfully performed for Crigler-Najjar syndrome type I 3

Irinotecan (a chemotherapy drug) should be used with caution and at decreased doses in patients with Crigler-Najjar syndrome due to UGT1A1 deficiency 4