Wilson's disease

被引：1
作者：
P. Ferenci
机构：
[1] Universitätsklinik für Innere Medizin III, Gastroenterologie und Hepatologie, Medizinische Universität, Wien
[2] Universitätsklinik für Innere Medizin III, Gastroenterologie und Hepatologie, Medizinische Universität Wien, 1090 Wien
来源：
Der Gastroenterologe | 2008年 / 3卷 / 3期
关键词：
Chelating agent; Extrapyramidal disorders; Liver transplantation; Wilson's disease; Zinc;
D O I：
10.1007/s11377-008-0161-6
中图分类号：
学科分类号：
摘要：
Wilson's disease is an autosomal-recessive inherited disorder of hepatic copper metabolism resulting in copper deposits in many organs. Clinically it appears as a chronic liver and/or typical neurosychiatric disorder. Diagnosis is straightforward if Kayser-Fleischer rings and/or reduced serum ceruloplasmin levels are present in addition to the neurologic symptoms. In cases presenting only with liver symptoms, no single parameter is sufficient to confirm the diagnosis - a combination of parameters including molecular genetic findings is needed (a diagnostic score by an international group has been proposed). Medical treatment requires life-long administration of copper chelators (D-penicillamine, trientine) or zinc. None of these treatment modalities has been confirmed in controlled studies. Liver transplantation is the treatment of choice for fulminant Wilson's disease and cases with advanced hepatic disease refractory to treatment. © 2008 Springer Medizin Verlag.
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页码：212 / 220
页数：8
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