Treatment of the Crigler–Najjar Syndrome Type I with Hepatocyte Transplantation

TLDR

Crigler–Najjar syndrome type I is a recessively inherited disorder causing severe unconjugated hyperbilirubinemia from birth due to absent UDP‑glucuronosyltransferase activity, leading to bilirubin accumulation and risk of kernicterus. The study aims to evaluate hepatocyte transplantation as an alternative to liver transplantation for definitive treatment. Patients with Crigler–Najjar syndrome type I are at risk for kernicterus because of unconjugated bilirubin accumulation, and phototherapy, while effective, requires 14–16 hours daily and becomes less effective around puberty. No additional information.

Abstract

Crigler–Najjar syndrome type I is a recessively inherited disorder characterized by severe unconjugated hyperbilirubinemia beginning at birth. The syndrome results from an absence of hepatic uridine diphosphoglucuronate (UDP) glucuronosyltransferase activity, which is essential for the conjugation and excretion of bilirubin. Because of the accumulation of unconjugated bilirubin in plasma, patients are at risk for kernicterus.1 Although phototherapy successfully reduces serum bilirubin levels, patients are again at risk for kernicterus around the time of puberty, when phototherapy becomes less effective.2 The necessary daily duration of phototherapy often approaches 14 to 16 hours. At present, liver transplantation is the only definitive treatment. . .