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.

Abstract:

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.

journal_name

Ann Clin Biochem

authors

Ihara H,Shino Y,Hashizume N,Shimizu N,Aoki T,Yoshida M

doi

10.1258/000456303322326443

subject

Has Abstract

pub_date

2003-09-01 00:00:00

pages

528-33

issue

Pt 5

eissn

0004-5632

issn

1758-1001

journal_volume

40

pub_type

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