(RxWiki News) A new scoring system allows for 93 percent effectiveness in diagnosing Wilson's disease (WD) in children who are asymptomatic.
WD is a rare genetic disorder in which excessive amounts of copper accumulate in the liver, kidneys, brain and cornea of the eyes. Patients may experience symptoms of liver diseases, slurred speech, tremors and/or a brown ring around the eye's cornea known as Kayser-Fleischer rings. Symptoms generally appear between the ages of 5 and 35, and early diagnosis is key for successful treatment.
By looking at a urinary copper excretion in children with mild liver disease, a research team in Italy has confirmed a scoring system for WD that provides a diagnostic accuracy of 93 percent positive and 92 perfect negative predictive values. Copper excretion above 40 μg/24 hours was suggestive of the disease.
"Diagnosis of WD is a challenging task, especially in childhood, because conventional criteria established for adults are not always appropriate for children," said Raffaele Iorio, M.D., of the University Federico II in Italy and lead author of the study.
Prompt diagnosis of WD is essential before liver and neurological damage progresses. The disease affects men and women equally. Approximately one in 40,000 individuals develop WD.
Dr. Iorio said that in spite of the problems associated with diagnosing the disease in children, "our study determined that genetic diagnosis is critical and the WD scoring system is a reliable method of analysis for these pediatric patients."