Evaluation of diagnostic parameters of Wilson's disease in childhood.

BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder with variable clinical presentation. Its diagnosis depends on a combination of clinical and laboratory findings. We evaluated the sensitivity of various diagnostic tests in children with WD and high liver copper concentrations. METHODS: Thirty-three children (6-15 years old, 19 male) with confirmed WD (hepatic copper >250 mcirog/g dry weight) were evaluated retrospectively. Eyes were examined with biomicroscope for Kayser-Fleischer rings and urinary copper content was determined in 30 patients. Serum ceruloplasmin levels were measured and liver tissue samples were stained with orcein in all. RESULTS: All patients presented with hepatic disease. Four patients also had neurological involvement. Hepatic copper concentration was between 250 and 1200 microg/g. Eighteen patients had liver cirrhosis, 9 chronic hepatitis, and 6 had massive hepatic necrosis on liver biopsy or necropsy. The sensitivity of various tests evaluated was: 100% (30/30) for urinary copper excretion, 88% (29/33) for orcein staining on liver tissues, 82% (27/33) for ceruloplasmin levels, and 63% (19/30) for presence of Kayser-Fleischer ring. Kayser-Fleischer ring was present in all patients with neurological manifestations and in 58% of patients with only hepatic presentation. CONCLUSIONS: 24-hour urinary copper excretion seems to be the most sensitive test for diagnosis of WD, particularly when liver biopsy cannot be performed due to coagulation abnormalities.