[A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation].

Crigler-Najjar syndrome type I is an autosomal recessive disorder with severe unconjugated hyperbilirubinemia, caused by the complete absence of bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT) activity. The authors reported a 24-year-old male with this syndrome. He had severe icterus from the age of 4 days, and was diagnosed as having Crigler-Najjar syndrome type I at 51 days after birth. Despite repeated phototherapy, his serum bilirubin was increased. When bilirubin encephalopathy occurred at the age of 16 years, the serum bilirubin level was 47 mg/100 ml. EEG showed diffuse and continuous high voltage slow waves. He was treated with bilirubin adsorption, which reduced the serum bilirubin level to 10-20 mg/100 ml, with disappearance of the EEG abnormality. Subsequent liver transplantation resulted in improvement of neurological signs and symptoms, and recovery of his mental function.

Removal of protein-bound and unbound unconjugated bilirubin by perfusion of plasma through an anion-exchange resin in a case of Crigler-Najjar syndrome type I.

BACKGROUND: Patients with Crigler-Najjar syndrome, type I (CNS-I) have an inherited absence of hepatocellular bilirubin uridine diphosphate-glucuronosyltransferase activity, which results in severe unconjugated hyperbilirubinaemia, often causing kernicterus and death in infancy or childhood. METHODS: Our patient is a 19-year-old Japanese man with CNS-I diagnosed by the complete absence of the hepatocellular enzyme in a liver biopsy and genotyping. The efficacies of the removal of protein-bound (PBB) and unbound (UB) unconjugated bilirubin by phototherapy, plasma perfusion and liver transplantation were compared in the patient. RESULTS: At the age of 5 years, phototherapy treatment reduced the patient's PBB by 21% and UB by 34%, and 98% of the bilirubin produced daily was removed. At the age of 16 years, plasma perfusion combined with nightly phototherapy completely removed the daily production of bilirubin; however, by 24 h post-treatment, the PBB and UB were again increased. Apparently, these treatments were effective in reducing PBB and UB, but the effect was only temporary. Following liver transplantation, PBB and UB decreased to normal concentrations. CONCLUSIONS: Liver transplantation as a potential cure should be performed at a younger age, particularly in confirmed CNS-I cases for which reliable effects of phototherapy cannot be guaranteed.