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Materials, Methods & Technologies, Volume 10, 2016

CURRENT METHODS OF DIAGNOSING AND TREATING PATIENTS WITH WILSON DISEASE
Konstantin Zhelyazkov
Pages: 657-667
Published: 20 Dec 2016
Views: 474
Downloads: 157
Abstract: Wilson disease is a rare genetic disease with autosomal recessive heredity which is characterized by excessive copper deposition in the liver, brain, eyes, kidneys, osseomuscular system as a result of a defect in the biliary excretion of the copper and its incorporation in the ceruloplasmin. The high level of copper in the described structure leads to a different spectrum of pathologic clinical manifestations, which, if not recognized on time can cause a series of neurological, psychological, gastroenterological complications, including death. If diagnosed early, Wilson disease is treatable and most patients could live a normal life. The aim of the paper is to present the main methods of diagnosing Wilson disease and then to analyze current treatment methods.
Keywords: wilson disease, copper metabolism, ceruloplasmin, kayser-fleischer rings, sunflower cataract
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