title: Wilson's disease patients with normal ceruloplasmin levels.
abstract: Wilson's disease, an inborn defect of copper metabolism, is a fatal disease unless specific treatment is given. Hepatic presentation mimics almost all kinds of liver disease and the diagnosis is sometimes problematic. The diagnosis is based on clinical findings, family history, presence of Kayser-Fleischer rings, and results of key laboratory tests such as low serum ceruloplasmin level, increased urinary copper excretion and hepatic copper content. We report four patients with Wilson's disease with hepatic manifestations with unknown there were difficulties in making the diagnosis because of normal serum ceruloplasmin levels. Inspite of normal ceruloplasmin levels and absence of Kayser-Fleischer rings, strong family history suggested Wilson's disease and the diagnosis was confirmed by increased urinary and hepatic copper amounts.
authors.affiliation: Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
authors.forename: A
authors.initials: A
authors.lastname: Yüce
authors.forename: N
authors.initials: N
authors.lastname: Koçak
authors.forename: H
authors.initials: H
authors.lastname: Ozen
authors.forename: F
authors.initials: F
authors.lastname: Gürakan
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002570:Ceruloplasmin / Q000378:metabolism*; D002648:Child; D003300:Copper / Q000032:analysis / Q000652:urine; D003937:Diagnosis, Differential; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy / Q000652:urine; D006801:Humans; D008099:Liver / Q000737:chemistry / Q000473:pathology; D010375:Pedigree
chemical_list: D003300:Copper; D002570:Ceruloplasmin