title: [Occurrence of copper metabolism abnormalities in the families of four individuals with newly diagnosed Wilson's disease].
abstract: The author describes the incidence of abnormalities of copper metabolism in families of four patients with recently diagnosed Wilson's disease. The patients were three men ad one girl, age 17-22 years where Wilson's disease was diagnosed on the basis of liver symptomatology and a typical laboratory finding. The period which elapsed between detection of the first clinical and laboratory symptoms and the establishment of the diagnosis of Wilson's disease varied between 1 months to eight years. Clinical and laboratory examination of all relatives of the affected subjects (parents and siblings) revealed an increased incidence of biochemical abnormalities as regards copper and ceruloplazmin levels in siblings. In the parents of the affected patients there were no marked biochemical abnormalities in the laboratory results in the examined families. Among seven siblings of the affected subjects in three Wilson's disease was diagnosed and in one instance a reduced serum copper and ceruloplazmin level without signs of increased copper retention in the organism. In one family Wilson's disease was detected in three siblings. The assembled findings confirm the urgency of systematic and careful laboratory and clinical examination of siblings of subject with diagnosed Wilson's disease.
authors.affiliation: Oddĕlení klinické biochemie Fakultní nemocnice, Brno-Bohunice.
authors.forename: M
authors.initials: M
authors.lastname: Dastych
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003300:Copper / Q000378:metabolism*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged
chemical_list: D003300:Copper
vernacular_title: Výskyt abnormalit metabolismu mĕdi v rodinách ctyr osob s novĕ diagnostikovanou Wilsonovou chorobou.