Journal of Regional Section of Serbian Medical Association in Zajecar
Year 2003     Volumen 28     Number 3-4
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UDK 616-008.9 ISSN 0350-2899, 28(2003) 3-4 p.91-96
Case report

Morbus Wilson - case report

Vladimir Mitov
Interno odeljenje, Zdravstveni centar Zaječar

Wilson's disease is presented as progressive autonomic recessive disorder characterized by disorder of transport and excessive accumulation of copper in liver, CNS, in the eyes and in other organs. Basically, it is autonomic recessive transferable defect of genes for P-type ATPase, protein that binds copper Cu in serum (the Copper-binding P-type ATPase gene). All patients have excessive accumulation of copper in the liver, in the basal ganglia and thalamus, deposition of copper in the Descement membrane, Kayser-Fleischer rings. Patient Z. S. born in Zajecar, in 1975 was diagnosed for Wilson's disease at Institute for mother and child, in 1987. A liver biopsy, levels of serum ceruloplasmin, and value of copper confirmed this diagnosis. Since 1997, he has neurological, ekstrapyrimidal symptoms. Because of anaemia, which has secondary, he was hospitalized first time in 2002. It was result of haemolyse in Wilsonís disease, but it was probably also consequence of kidneys infirmity. In that time, diagnosed kidney infection was probably the result of heaping cupper in tubules and/or nephrototoxic penicillamine. It was terminal kidney infection, on therapy with haemodialysis.
Key words: Wilson's disease, ceruloplasmin, Copper, ekstrapirimidal symptoms
  Correspondence to:
Vladimir Mitov
Novosadska 16/1, 19000 Zaječar
Serbia and Montenegro
e-mail: mitov@ptt.yu
  Received: 21. V 2003.
Accepted: 7. VII 2003.
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