title: [Crigler-Najjar type 1 in children].
abstract: Crigler-Najjar type 1 is a rare congenital disease caused by total lack of activity of bilirubin uridine diphosphate glucuronosyl transferase (UGT1A1) in the liver. The disease is characterised by a persistent severe unconjugated hyperbilirubinaemia. The primary treatment is phototherapy, with oral calcium phosphate as a possible supplementation. The effect of the treatment decreases by age, and if the phototherapy is insufficient the patient will need a liver transplantation. Hepatocyte transplantation has been tried with transient success. The risk of chronic bilirubin encephalopathy is considerable.
authors.affiliation: Strandgade 10 B, 2., 1401 København K. bach.stine@gmail.com.
authors.forename: Kristine
authors.initials: K
authors.lastname: Bach Knudsen
authors.forename: Finn
authors.initials: F
authors.lastname: Ebbesen
mesh_terms: D001663:Bilirubin / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003414:Crigler-Najjar Syndrome / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D007223:Infant; D007647:Kernicterus / Q000209:etiology / Q000517:prevention & control; D016031:Liver Transplantation; D010789:Phototherapy; D035583:Rare Diseases
chemical_list: D001663:Bilirubin