血浆胆红素吸附治疗肝豆状核变性并发肝衰竭1例

Biomedical Engineering and Clinical Medicine(2017)

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Abstract
肝豆状核变性(hepatolenticular degeneration)又称为Wil-son's disease(WD),是一种常染色体隐性遗传性铜代谢障碍性疾病,肝硬化和中枢神经系统损害是其主要特点. 全球发病率为1/3万 ~1/10万,致病基因携带者约为1/90[1~5]. 角膜缘Kayser―Fleischer(K―F)环和有关铜代谢及疾病相关基因突变的实验室检测阳性是诊断该病的主要依据; 若临床表现不典型或实验室检测项目不全面,那么该病可能被漏诊.
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