Liver Cirrhosis in a Patient with Crigler Najjar Syndrome

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

FETAL AND PEDIATRIC PATHOLOGY, cilt.37, sa.4, ss.301-306, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1080/15513815.2018.1492053
  • Dergi Adı: FETAL AND PEDIATRIC PATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.301-306
  • Anahtar Kelimeler: Crigler Najjar disease, cirrhosis, pathology, GILBERT
  • Eskişehir Osmangazi Üniversitesi Adresli: Hayır

Özet

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.