AGE DEPENDENT PARAMETERS AND THE DIAGNOSTIC ACCURACY OF THE SCORING SYSTEM IN PEDIATRIC WILSON DISEASE

Abstract

Objectives and Study: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism resulting in accumulation of copper in the liver and other organs. There is no single diagnostic test that can exclude or confirm WD with certainty. Recently molecular biological methods play important role in WD confirmation. However, WD is often diagnosed by clinical findings and biochemical tests in many clinical units because genetic analysis is not yet universally available and sometimes inconclusive. We evaluate the efficacy of the scoring system, which was proposed at the 8th International Meeting on Wilson disease and Menkes disease in Leipzig, and the difference in diagnostic accuracy by age.