肝豆状核变性是常染色体隐性遗传的铜代谢障碍疾病,最常侵犯儿童或青年人临床表现呈多样性,典型的病人有肝及脑基底节损害、角膜色素环三个主要表现。本病并不很少见,若早期治疗可以维持正常生活和寿命,如不及早治疗最后均会造成死亡。一、发病机制铜代谢障碍并在体内脏器积蓄造成组织损害是本病的病理生理改变,多数人认为由于自肠道吸收的铜不能正常地在肝内合成铜兰蛋白而在脏器中积聚。但铜兰蛋白降低的真正机制未明。体内铜主要以铜 Hepatolenticular degeneration is an autosomal recessive disease of copper metabolism disorders, the most common clinical manifestations of children or young people were infested diversity, typical patients with liver and brain basal ganglia damage, corneal pigment ring three main manifestations. The disease is not uncommon, if the early treatment can maintain normal life and life expectancy, if not treated early will result in death. First, the pathogenesis of copper metabolism disorders and organ damage in the body caused by tissue damage is the pathophysiology of the disease changes, most people think that due to intestinal absorption of copper can not normally in the liver synthesis of ceruloplasmin and accumulation in the organ . However, the true mechanism of ceruloplasmin reduction is unknown. Copper in the body mainly copper