肝豆状核变性 (ｈｅｐａｔｏｌｅｎｔｉｃｕｌａｒｄｅ ｇｅｎｅｒａｔｉｏｎ ,ＨＬＤ)是一种常染色体隐性遗传性铜代谢障碍性疾病。其发病机制是体内铜代谢异常引起大量铜在肝、脑等全身组织中沉积 ,导致沉积部位的功能与结构损害。由于遗传和个体的异质性 ,在临床上患者往往 Hepatolenticular degeneration (HLD) is an autosomal recessive copper metabolism disorder. The pathogenesis of copper metabolism in the body caused by a large number of copper in the liver, brain and other body tissues deposited, leading to deposition of parts of the function and structural damage. Due to genetic and individual heterogeneity, patients are often clinically