Dastych M
Oddĕlení klinické biochemie Fakultní nemocnice, Brno-Bohunice.
Vnitr Lek. 1997 Feb;43(2):87-90.
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.
作者描述了4例近期诊断为威尔逊氏病患者家庭中铜代谢异常的发生率。患者为3名男性和1名女孩,年龄在17至22岁之间,根据肝脏症状和典型的实验室检查结果诊断为威尔逊氏病。从首次出现临床和实验室症状到确诊威尔逊氏病的时间间隔为1个月至8年不等。对所有受影响受试者的亲属(父母和兄弟姐妹)进行临床和实验室检查发现,兄弟姐妹中铜和铜蓝蛋白水平的生化异常发生率有所增加。在所检查的家庭中,受影响患者的父母在实验室检查结果中没有明显的生化异常。在受影响受试者的7名兄弟姐妹中,有3例被诊断为威尔逊氏病,1例血清铜和铜蓝蛋白水平降低,但体内没有铜潴留增加的迹象。在一个家庭中,3名兄弟姐妹都被检测出患有威尔逊氏病。汇总的研究结果证实,对已确诊威尔逊氏病患者的兄弟姐妹进行系统、仔细的实验室和临床检查非常紧迫。