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Scoring system is 93 percent accurate for diagnosing Wilson's disease in pediatric patients

Penicillamine challenge ineffective for detecting the disease in asymptomatic children

An Italian research team confirmed that the scoring system for Wilson's disease (WD) provides good diagnostic accuracy with 93% positive and 92% negative predictive values, respectively in children with mild liver disease.

In asymptomatic children, a urinary copper excretion above 40 ìg/24 hours was suggestive of WD, however the penicillamine challenge test (PCT) did not provide an accurate diagnosis in this patient subset. Results of the study appear in the December issue of Hepatology, a journal published by Wiley-Blackwell on behalf of the American Association for the Study of Liver Diseases (AASLD).

WD is a rare genetic disorder where excessive amounts of copper accumulate in the liver, kidneys, brain, and eyes (cornea). Patients may experience a brown ring (Kayser-Fleischer ring) around the cornea of the eye, various liver diseases, slurred speech, and tremors, with symptoms appearing between the ages of 5 to 35. According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) approximately one in 40,000 individuals develop WD, which affects men and women equally.

A prompt diagnosis of WD is vital to avoid rapid progression of liver and neurological damage. "Unfortunately, diagnosis of WD is a challenging task, especially in childhood, because conventional criteria established for adults are not always appropriate for children," explained Raffaele Iorio, M.D., of the University Federico II in Italy and lead author of the study.

In order to evaluate the current standard diagnostic criteria and WD scoring system, the research team collected data on 40 children with WD and 58 children with liver disease other than WD, ranging in age from 1 to 21 years of age. Both groups were symptom-free with the predominant sign of liver disease being elevated aminotransferases (higher levels of enzymes from liver cells that when released into the blood, signify liver disease). Molecular analysis and liver copper content test were also performed to confirm the WD diagnosis.

Results showed the optimal urinary copper diagnostic was 40ìg/24h which had a sensitivity of 79% and specificity of 88%. Researchers found no significant difference in urinary copper after PCT in either WD patients or control subjects. "The data found by Iorio et al. demonstrates that the current AASLD guideline approach to the diagnosis of WD—obtaining a slit lamp exam, a serum ceruloplasmin and a 24-hour urine copper followed by a liver biopsy in some patients—is useful even in young, clinically asymptomatic children," confirmed Dr. Michael Schilsky, Associate Professor of Medicine and Surgery at Yale University Medical Center, in his and Dr. Rosencrantz's editorial also publishing this month in Hepatology.

Dr. Iorio concluded, "Establishing a WD diagnosis in children with mild liver disease is often problematic. Our study determined that genetic diagnosis is critical and the WD scoring system is a reliable method of analysis for these pediatric patients."

Article: "Re-Evaluation of the Diagnostic Criteria for Wilson Disease in Children with Mild Liver Disease." Emanuele Nicastro, Giusy Ranucci, Pietro Vajro, Angela Vegnente, Raffaele Iorio. Hepatology; Published Online: October 21, 2010 (DOI: 10.1002/hep.23910); Print Issue Date: December 2010.

Editorial: "Mining for a Diagnosis of Wilson Disease in Children: Genetics, Score and Ore." Richard A. Rosencrantz and Michael L. Schilsky. Hepatology; Published Online: November 23, 2010 (DOI: 10.1002/hep.24054); Print Issue Date: December 2010.

These studies are published in Hepatology. Media wishing to receive a PDF of the articles may contact

About the Journal

Hepatology is the premier publication in the field of liver disease, publishing original, peer-reviewed articles concerning all aspects of liver structure, function and disease. Each month, the distinguished Editorial Board monitors and selects only the best articles on subjects such as immunology, chronic hepatitis, viral hepatitis, cirrhosis, genetic and metabolic liver diseases and their complications, liver cancer, and drug metabolism. Hepatology is published on behalf of the American Association for the Study of Liver Diseases (AASLD). For more information, please visit

About Wiley-Blackwell

Wiley-Blackwell is the international scientific, technical, medical, and scholarly publishing business of John Wiley & Sons, with strengths in every major academic and professional field and partnerships with many of the world's leading societies. Wiley-Blackwell publishes nearly 1,500 peer-reviewed journals and 1,500+ new books annually in print and online, as well as databases, major reference works and laboratory protocols. For more information, please visit or our new online platform, Wiley Online Library (, one of the world's most extensive multidisciplinary collections of online resources, covering life, health, social and physical sciences, and humanities.

Dawn Peters | EurekAlert!
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Further reports about: AASLD Hepatology Iorio Online Broker PCT Scoring Wiley-Blackwell liver liver disease

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