Wilson's disease patients with normal ceruloplasmin levels


Yuce A., Kocak N., Ozen H. , Gurakan F.

TURKISH JOURNAL OF PEDIATRICS, vol.41, no.1, pp.99-102, 1999 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 41 Issue: 1
  • Publication Date: 1999
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.99-102

Abstract

Wilson's disease, an inborn defect of copper metabolism, is a fatal disease unless specific treatment is given. Hepatic presentation mimics almost all kinds of liver disease and the diagnosis is sometimes problematic. The diagnosis is based on clinical findings, family history, presence of Kayser-Fleischer rings, and results of key laboratory tests such as low serum ceruloplasmin level, increased urinary copper excretion and hepatic copper content.