Wilson's disease patients with normal ceruloplasmin levels


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

TURKISH JOURNAL OF PEDIATRICS, cilt.41, sa.1, ss.99-102, 1999 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 41 Konu: 1
  • Basım Tarihi: 1999
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.99-102

Özet

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.