肝豆状核变性(hepatolenticular degeneration)是一种常染色体隐性遗传性铜代谢障碍疾病。本病的致病基因ATP7B已明确位于染色体13q14.3,编码一种铜转运P型ATP酶。ATP7B基因突变导致ATP酶功能障碍,引起在肝脏的铜蓝蛋白合成障碍和胆道排铜障碍,造成铜在体内全身各脏器尤以大脑基底核、肝脏、肾脏及角膜等部位大量沉着,而出现复杂多样的临床表 Hepatolenticular degeneration is an autosomal recessive disorder of copper metabolism. The pathogenic gene ATP7B has been clearly located on chromosome 13q14.3, encoding a copper transport P-type ATPase. ATP7B gene mutations lead to ATPase dysfunction, causing the synthesis of ceruloplasmin in the liver and biliary copper disorder, resulting in copper in the body of the body organs especially in the basal ganglia, liver, kidney and cornea and other parts of a large number of deposition, and the emergence of Complex and diverse clinical tables