Tests for Wilson Disease in Asymptomatic Children

Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism that can lead to liver disease and adverse effects on kidneys, bones, and the nervous system. Early diagnosis and treatment can prevent substantial morbidity but can be challenging, particularly in children.

To evaluate the performance of conventional tests and a recently proposed scoring system for diagnosing WD (Liver Int 2003; 23:139), researchers in Italy studied asymptomatic children with WD — confirmed by an abnormal liver copper concentration plus the identification of two disease-causing mutations or homozygosity for a single disease-causing mutation (the gold standard for diagnosing WD). The diagnostic tests that were assessed measured serum ceruloplasmi…