Objective With the development of children 's health care policy, mild Wilson Disease as the first symptom of pa-tients is increasing.In this study, we assessed the reliability of the 2001 international general standards of the Wilson Disease diagnos -tic score.Methods Twenty -one cases of Wilson Disease in children (11 cases were boys, 10 cases were girls, average age was 3 ~10.8 years) included in the study, other 21 cases with liver disease were age-matched and gender-matched.There were no clinical symptoms, only with abnormal liver function in laboratory tests .All the patients with Wilson Disease were all confirmed through genetic diagnosis.Results Receiver operating characteristic (ROC) curve analysis showed that at 20 mg /L threshold, the sensitivity of cer-uloplasmin was 93.4% (95% CI : 81.2% ~98.8%), the specificity was 81.8 (95% CI : 71.6% ~93.6%); urinary copper diag-nostic threshold was 40μg/L/24h, the sensitivity was 75.9% (95% CI :61.7% ~92.4%); the specificity was 89.9% (95% CI :73.7% ~96.6%).WD scoring diagnostic system of the positive and negative predictive values as high as 93% and 91.6%.Penicil-lamine load test in Wilson Disease and control groups , no significant difference between the ROC curve showed a sensitivity of only 10%.Conclusions WD scoring diagnostic system in the mild Wilson Disease patients still has a high diagnostic specificity , but peni-cillamine load test does not have diagnostic significance in some patients .%目的：探讨 WD 评分标准诊断系统在轻型肝豆状核变性（wilson disease，WD）疾病中的诊断价值，为临床提供诊断依据。方法本医院门诊纳入21例年龄3～10．8岁的肝豆状核变性患儿（男11例，女10例），收集年龄、性别匹配的肝脏疾病患儿21例，两组均无临床症状，仅有肝功能异常的实验室检查。所有肝豆状核变性的患者，所有诊断均通过基因诊断确诊。结果接受者操作特征曲线（ROC）分析表明，在20mg／L 的临界值时，铜蓝蛋白的敏感度93．4％，95％ CI ：81．2％～98．8％，特异度81．8％，95％ CI ：71．6％～93．6％；尿铜的最佳诊断临界值是40μg／L／24h 时，敏感度75．9％，95％ CI ：61．7％～92．4％；特异度89．9％，95％ CI ：73．7％～96．6％。 WD 评分标准诊断系统的阳性和阴性预测值高达93．0％和91．6％。青霉胺负荷试验在肝豆状核变性组与对照组比较差异无统计学意义（ P ＞0．05），ROC 曲线分析其敏感度10％。结论WD 评分标准诊断系统在轻型肝豆状核变性患儿仍具有较高的诊断特异度，而青霉胺负荷试验在这部分患儿中诊断意义有限。
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