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| UDK 616-008.9 | ISSN 0350-2899, 28(2003) 3-4 p.91-96 | ||||||||||
Case report Morbus Wilson - case reportVladimir Mitov |
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| Summary: 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 Wilson’s 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 |
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Correspondence to: Vladimir Mitov Novosadska 16/1, 19000 Zaječar Serbia and Montenegro e-mail: mitov@ptt.yu |
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Received: 21. V 2003. Accepted: 7. VII 2003. |
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| Infotrend Crea(c)tive Design | Revised: 20 May 2009 | ||||||||||
