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Central European Journal of Medicine

, Volume 5, Issue 2, pp 145–149 | Cite as

Wilson’s disease

  • Mehmet Hursitoglu
  • Mehmet A. Cikrikcioglu
  • Ahmet Danalioglu
  • Tufan Tukek
Review Article
  • 202 Downloads

Abstract

Wilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.

Keywords

Copper metabolism Kayser-Fleischer rings Wilson’s disease Chelating agents Liver transplantation 

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Copyright information

© © Versita Warsaw and Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  • Mehmet Hursitoglu
    • 1
  • Mehmet A. Cikrikcioglu
    • 1
  • Ahmet Danalioglu
    • 2
  • Tufan Tukek
    • 1
  1. 1.Internal Medicine DepartmentVakif Gureba Training & Research HospitalIstanbulTurkey
  2. 2.Gastroenterohepatology clinicMedikal Park HospitalIstanbulTurkey

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