Re-evaluation of the diagnostic criteria in mild Wilson Disease / 中国医师杂志

ABSTRACT

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% CI61.7% ~92.4%); the specificity was 89.9% (95% CI73.7% ~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 .