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肝豆状核变性(hepatolenticular degeneration)又称Wilson病(Wilson’s disease,WD)是一种常染色体隐性遗传性铜代谢障碍疾病,其发病率约1/30万,一般6~20岁出现明显临床症状,其致病基因已被成功克隆,定位于13q14.3,为ATP7B突变[1]。本症因细胞内铜代谢障碍、铜过量积聚,引起氧化应激反应,导致细胞功能损害甚至凋亡,
Hepatolenticular degeneration, also known as Wilson’s disease (WD), is an autosomal recessive inherited disorder of copper metabolism with a prevalence of about 1 in 30 000. The general clinical manifestations of 6 to 20 years of age Symptoms, its causative gene has been successfully cloned, located in 13q14.3, for the ATP7B mutation [1]. The disease due to intracellular copper metabolism disorders, excessive accumulation of copper, causing oxidative stress, leading to cell dysfunction or apoptosis,