[Crigler-Najjar syndrome type II in a 17-year-old girl].
The Crigler-Najjar-Syndrome type II is characterised by the decreased activity of the bilirubin-UDP-glucuronyltransferase. This fact leads to an increase of the indirect bilirubin to 6-10 mg/dl. The mode of hereditary transmission is autosomal dominant with variable penetrance. The age of manifestation varies from the first year to the second decade of life. The Crigler-Najjar-Syndrome type II of a 17-year-old girl is reported. The diagnosis was made on the basis of the pattern of laboratory parameters in combination with an uneventful morphology of the liver. Under treatment with Chlofibrat the decrease of the serum total bilirubin from 10.4 mg/dl to 2 mg/dl was achieved.
D000293:Adolescent; D001663:Bilirubin / Q000097:blood; D001706:Biopsy; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002994:Clofibrate / Q000008:administration & dosage; D003414:Crigler-Najjar Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D014453:Glucuronosyltransferase / Q000172:deficiency; D006801:Humans; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests
D014453:Glucuronosyltransferase; D002994:Clofibrate; D001663:Bilirubin
Crigler-Najjar-Syndrom Typ II bei einem 17jährigen Mädchen.