Cox D W
Can Med Assoc J. 1967 Jan 14;96(2):83-6.
Varied modes of onset make the early diagnosis of Wilson's disease difficult. A deficiency of serum ceruloplasmin, usually characteristic of the disease, was used as the basis for a screening test. Simple test materials and provision for handling about 50 plasma samples simultaneously made this test feasible for large-scale screening.The screening test was applied to 336 persons hospitalized for psychiatric disorders, to detect patients with Wilson's disease before the classical symptoms appeared. Two patients with ceruloplasmin levels below the normal limits were detected but did not have Wilson's disease. Further application of the screening test to relatives of patients known to have Wilson's disease and to individuals with any symptoms of the disease (hepatic disease, extrapyramidal dysfunction, psychiatric disorders, behaviour problems in children) would aid in early diagnosis and more effective treatment.
威尔逊病多样的发病方式使得其早期诊断困难。血清铜蓝蛋白缺乏通常是该疾病的特征，被用作筛查试验的基础。简单的检测材料以及同时处理约50份血浆样本的条件使得该试验适用于大规模筛查。该筛查试验应用于336名因精神障碍住院的患者，以在经典症状出现之前检测出威尔逊病患者。检测出两名铜蓝蛋白水平低于正常范围的患者，但他们并未患有威尔逊病。将该筛查试验进一步应用于已知患有威尔逊病患者的亲属以及有该疾病任何症状（肝病、锥体外系功能障碍、精神障碍、儿童行为问题）的个体，将有助于早期诊断和更有效的治疗。
