Liver Cirrhosis in a Patient with Crigler Najjar Syndrome


Baris Z. , Ozcay F., Usta Y., Ozgun G.

FETAL AND PEDIATRIC PATHOLOGY, vol.37, no.4, pp.301-306, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 4
  • Publication Date: 2018
  • Doi Number: 10.1080/15513815.2018.1492053
  • Title of Journal : FETAL AND PEDIATRIC PATHOLOGY
  • Page Numbers: pp.301-306

Abstract

Introduction: Crigler Najjar (CN) disease is a genetic disorder which results in increased unconjugated bilirubin level. Liver parenchyma was previously considered structurally normal. Recent reports describe significant fibrosis in the liver parenchyma of patients with CN syndrome. Case report. We present a patient with persistent unconjugated hyperbilirubinemia, clinically diagnosed as CN-2, with a UGT1 A1 p. H39D (c.115C > G) (His -> Asp) mutation. She required hepatic transplantation at the age of 17.5 years for biliary cirrhosis. Explanted liver histopathology revealed regenerative cirrhotic nodules with dilated bile ducts filled with bile plugs. Conclusion: CN can develop significant hepatic fibrosis/cirrhosis requiring liver transplantation.