Dastych M, Jezek P, Snelerová M
Vnitr Lek. 1989 Jul;35(7):695-700.
The authors give an account on the incidence of Wilson's disease in two sisters (17 and 8 years). In the older one the diagnosis was established after 8, years in the younger one three years after the first laboratory sings of hepatopathy. As to the range of available laboratory methods in the diagnosis of Wilson's disease, in particular serum ceruloplasmin, serum copper and copper in urine are assessed as well as increased accumulation of copper in hepatic tissue. With regard to the serious character of Wilson's disease and the possibility of effective treatment it is important to rule it out in all cases of obscure hepatopathies, in particular in children and adolescents. It is important to take into account also atypical clinical and laboratory manifestations of Wilson's disease.
作者报告了两姐妹（分别为17岁和8岁）患威尔逊氏病的发病率情况。年龄较大的患者在出现症状8年后确诊，年龄较小的患者在首次出现肝病实验室迹象3年后确诊。关于威尔逊氏病诊断中可用实验室方法的范围，特别评估了血清铜蓝蛋白、血清铜和尿铜，以及肝组织中铜的蓄积增加情况。鉴于威尔逊氏病的严重性以及有效治疗的可能性，在所有不明原因肝病病例中，尤其是儿童和青少年中排除该病很重要。考虑威尔逊氏病非典型的临床和实验室表现也很重要。
