{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T11:56:59Z","timestamp":1791633419444,"version":"4.3.4"},"reference-count":32,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1735,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      The diagnosis of Wilson disease (WD) is challenging, especially in children. Early detec-tion is desirable in order to avoid dramatic disease progression. The aim of our study was to re-evaluate in WD children with mild liver disease the conventional diagnostic criteria and the WD scoring system proposed by an international consensus in 2001. Forty chil-dren with WD (26 boys and 14 girls, age range 5 1.1-20.9 years) and 58 age-matched and sex-matched patients with a liver disease other than WD were evaluated. Both groups were symptom-free and had elevated aminotransferases as predominant signs of liver disease. In all WD patients, the diagnosis was supported by molecular analysis, the liver copper con-tent, or both. A receiver operating characteristic (ROC) analysis of ceruloplasmin at the cutoff value of 20 mg\/dL showed a sensitivity of 95% [95% con\ufb01dence interval (CI) 5 83%-99.4%] and a speci\ufb01city of 84.5% (95% CI 5 72.6%-92.6%). The optimal basal uri-nary copper diagnostic cutoff value was found to be 40 lg\/24 hours (sensitivity 5 78.9%, 95% CI 5 62.7%-90.4%; speci\ufb01city 5 87.9%, 95% CI 5 76.7%-95%). Urinary copper values after penicillamine challenge did not signi\ufb01cantly differ between WD patients and control subjects, and the ROC analysis showed a sensitivity of only 12%. The WD scoring system was proved to have positive and negative predictive values of 93% and 91.6%, respectively.\n                      <jats:italic toggle=\"yes\">Conclusion:<\/jats:italic>\n                      Urinary copper excretion greater than 40 lg\/24 hours is sugges-tive of WD in asymptomatic children, whereas the penicillamine challenge test does not have a diagnostic role in this subset of patients. The WD scoring system provides good diagnostic accuracy. 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