肝豆状核变性首先由Wilson氏报告于1912年,故又称Wilson氏病。国内外资料及临床工作实践均表明,本病并不很少见。发病机理本病是一种常染色体隐性遗传性疾病。父母一般为无症状的杂合子,其子女不分性别、胎次,有2/4机会为纯合子病人,1/4机会为杂合子携带者,1/4机会为正常人。铜代谢障碍并在体内积蓄是本病基本的病理生理改变。据认为,病人体内每天可蓄积铜0.5～1mg或0.5～2.5mg。铜代谢紊乱的具体环节还未完全明确。多数人认为是由 Hepatolenticular degeneration was first reported by Wilson in 1912, so it is also called Wilson’s disease. Domestic and foreign information and clinical practice have shown that the disease is not uncommon. Pathogenesis This disease is an autosomal recessive genetic disease. Parents are usually asymptomatic heterozygous children, regardless of their children regardless of gender, parity, 2/4 chance of homozygous patients, 1/4 chance of heterozygous carriers, 1/4 chance of normal. Copper metabolism disorders and accumulation in the body is the basic pathophysiology of the disease. It is believed that the patient’s body can accumulate copper 0.5 ~ 1mg or 0.5 ~ 2.5mg a day. The specific links of copper metabolism disorders have not been completely clear. Most people think that is