Wilson disease; analysis of 34 Turkish patients

The aim of this study was to determine clinical and laboratory findings of 34 Turkish children with Wilson disease (WD) at diagnosis before treatment. Presenting symptom was chronic liver disease in 27 patients. Five patients also had neurological symptoms. Seven patients were detected by family scr eening (siblings) and two were asymptomatic. Evaluation included neurologic al and ophthalmic examination, routine laboratory tests and parameters of c opper metabolism, including liver copper content in 20 liver biopsy specime ns. In the whole group, serum ceruloplasmin level was 20 mg/dl in 76.5%, ur inary copper excretion was increased in 81.4% and liver copper content was elevated in 45% at diagnosis. Kayser-Fleischer rings were detected in 47% o f patients. We concluded that, in patients presenting with liver disease an d/or neurologic abnormalities of unknown origin, even normal ceruloplasmin and hepatic copper concentration, WD should always be kept in mind. On the other hand, family screening must be done in order to find siblings who suf fer from WD in the early stages. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.