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Wilson病是一种铜代谢异常导致的遗传性肝脏疾病,在临床上并不少见。2012年2月,欧洲肝脏病学会发布了最新版《Wilson病临床诊疗指南》[1],该指南回顾了1966年至2011年期间关于Wilson病的文献资料,就该病的诊疗进行了全面阐述。现将该指南部分内容摘译如下,以供临床医师参考。1背景正常饮食每日消化和吸收的铜超过代谢所需,为维持这一元素在人体内的动态平衡,惟一的排出途径即通过胆汁排出。Wilson病是一种遗传性的铜代谢障碍疾病,导致铜在机体内沉积,以肝脏及脑部为著。病因为13号常染色体的ATP7B
Wilson’s disease is a hereditary liver disease caused by abnormal copper metabolism, which is not uncommon in clinical practice. In February 2012, the European Society of Hepatology released the latest edition of the Clinical Guide to Wilson’s Disease [1], which reviews the literature on Wilson’s disease from 1966 to 2011 and provides a comprehensive overview of the diagnosis and treatment of the disease . Now part of the guideline excerpt below, for clinicians reference. 1 Background Normal diet Daily digestion and absorption of copper beyond the metabolic needs, in order to maintain the dynamic balance of this element in the human body, the only way to discharge through the bile excretion. Wilson’s disease is an inherited disorder of copper metabolism that causes the deposition of copper in the body, with the liver and brain. The etiology is ATP7B on chromosome 13