title: [Crigler-Najjar's syndrome is a rare cause of perinatal hyperbilirubinaemia].
abstract: A seven-day-old, mature girl was hospitalized with serum unconjugated bilirubin 420 micromol/l. She was treated with phototherapy, which continued at home until the age of 14 years. Serum total bilirubin was then 250-300 micromol/l and she received a liver transplantation. At the age of 22 years she had no signs of chronic bilirubin encephalopathy. There was no activity of bilirubin UDP-glucuronosyl transferase in the liver, and a mutation was found in one of the coding exons in the gene. The girl suffered from Crigler-Najjar's syndrome type 1. In Denmark the incidence was about 2.7 × 10-6 in the period 1977-2010. The prevalence was about 0.5 × 10-6.
authors.forename: Kristine
authors.initials: K
authors.lastname: Knudsen
authors.forename: Finn
authors.initials: F
authors.lastname: Ebbesen
authors.forename: Astrid-Helene
authors.initials: AH
authors.lastname: Andreasen
mesh_terms: D000293:Adolescent; D001663:Bilirubin / Q000378:metabolism; D003414:Crigler-Najjar Syndrome / Q000150:complications* / Q000175:diagnosis / Q000601:surgery / Q000628:therapy; D005260:Female; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery / Q000628:therapy; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology / Q000473:pathology; D016031:Liver Transplantation; D010789:Phototherapy; D016896:Treatment Outcome
chemical_list: D001663:Bilirubin