Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry.

We found in 31 patients with liver fibrosis evaluation (liver histology or Fibroscan) five patients (16%) with signs of advanced liver fibrosis. Keywords: encephalopathy; liver transplantation; phototherapy; UGT1A1; unconjugated hyperbilirubinemia EN encephalopathy liver transplantation phototherapy UGT1A1 unconjugated hyperbilirubinemia 1593 1604 12 06/27/22 20220701 NES 220701 Abbreviations ALT alanine aminotransferase AST aspartate aminotransferase CB conjugated bilirubin CNS Crigler-Najjar syndrome GGT gamma glutamyl transpeptidase PB phenobarbital PT phototherapy TB total bilirubin UCB unconjugated bilirubin UGT1A1 uridine 5'-diphosphate glucuronosyltransferase ULN upper limit of normal Abstract Background and Aims Crigler-Najjar syndrome (CNS) is a disorder of bilirubin conjugation leading to brain damage and death without treatment. That in our small subcohort of fibrosis evaluated patients only patient with PT showed fibrosis is most likely caused because of the more severe phenotype in these patients but an association between long-term PT use and development of fibrosis cannot be excluded based on our data. Better detection and characterizing of liver fibrosis in CNS patients is necessary to gain an understanding of aetiology, to identify patients at risk, to develop individual treatment plans (e.g. LT vs. gene therapy in the future) and to probably find a way to avoid the development of fibrosis. [Extracted from the article]