Wilson disease; Analysis of 34 Turkish patients


Altuntaş B., Ertan Ü., Şenbil N., Yarali N.

Hepatology Research, vol.14, no.1, pp.13-17, 1999 (Refereed Journals of Other Institutions) identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 1
  • Publication Date: 1999
  • Doi Number: 10.1016/s1386-6346(98)00102-8
  • Title of Journal : Hepatology Research
  • Page Numbers: pp.13-17
  • Keywords: Childhood, Diagnosis, Wilson disease

Abstract

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 screening (siblings) and two were asymptomatic. Evaluation included neurological and ophthalmic examination, routine laboratory tests and parameters of copper metabolism, including liver copper content in 20 liver biopsy specimens. In the whole group, serum ceruloplasmin level was 20 mg/dl in 76.5%, urinary copper excretion was increased in 81.4% and liver copper content was elevated in 45% at diagnosis. Kayser-Fleischer rings were detected in 47% of patients. We concluded that, in patients presenting with liver disease and/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 suffer from WD in the early stages.