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Penicillamine Test Imperfect for Detecting Wilson's Disease

Specificity and sensitivity is good in symptomatic children, but less so in asymptomatic children

FRIDAY, Aug. 24 (HealthDay News) -- The penicillamine challenge test can detect Wilson's disease in pediatric patients who are experiencing symptoms but it is less useful for detecting the disease in asymptomatic children or for ruling it out in healthy siblings, according to the results of a study published in the August issue of the Journal of Hepatology.

Thomas Muller, M.D., of the University of Innsbruck in Austria, and colleagues compared a cohort of 98 pediatric patients with liver disease, including 38 who were eventually diagnosed with Wilson's disease. They evaluated basal copper excretion over 24 hours after oral challenge with penicillamine.

The post-penicillamine test had a sensitivity of 76 percent and a specificity of 93 percent, but the sensitivity was 92 percent in symptomatic children and 46 percent in symptomatic children.

"This test is valuable in the diagnosis of Wilson's disease with active liver disease, but is unreliable to exclude the diagnosis in asymptomatic siblings," the authors conclude.

"We are still searching for the holy grail of a single, cost effective and highly specific non-invasive test for Wilson's disease," Michael Schilsky, M.D., of Weill Cornell Medical Center in New York City, writes in an editorial.

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