Saito T
J Epidemiol Community Health. 1981 Dec;35(4):274-80. doi: 10.1136/jech.35.4.274.
The efficiency of screening for Wilson's disease by serum caeruloplasmin determination was assessed by analysing the epidemiologic data of 289 affected families in Japan. The estimated gene frequency was 5.2 x 10(-3). The sensitivity of the screening test was 93% at a proposed cut-off level of 120 mg/l and the specificity was 99.83%. In Japan 1 500 000 children are born every year of whom 50 would be expected to have Wilson's disease. The present analysis of potential screening for all children would grade three of them as false-negatives and identify 2621 as false-positives. An analysis for children only from consanguineous marriages produced a more efficient result, with a much higher predictive value of the positive and case-finding rate. Although the number of patients identified in this latter high-risk screening group was small, it is worth considering as a pilot study.
通过分析日本289个患病家庭的流行病学数据，评估了血清铜蓝蛋白测定对威尔逊病的筛查效率。估计基因频率为5.2×10⁻³。在提议的120mg/l的临界值水平下，筛查试验的敏感性为93%，特异性为99.83%。在日本，每年有150万儿童出生，其中预计有50人患有威尔逊病。目前对所有儿童进行潜在筛查的分析将把其中三人判定为假阴性，并将2621人识别为假阳性。仅对近亲结婚家庭的儿童进行分析产生了更有效的结果，阳性预测值和病例发现率更高。尽管在后一个高危筛查组中识别出的患者数量较少，但作为一项试点研究值得考虑。
