肝豆状核变性又称威尔逊病(Wilson’s disease,WD),是一种以青少年为主的常染色体隐性遗传的铜代谢障碍疾病~([1])。其特点为铜代谢障碍导致铜在体内过度沉积,主要累及肝脏、中枢神经系统、肾脏及角膜,病变特征性地分布于脑组织、肝脏、肾脏及角膜等处。由于铜离子在各脏器沉积的先后不同和数量不一,其临床出现多种多样。可有较广泛神经系统损 Wilson’s disease, also known as Wilson’s disease (WD), is an autosomal recessive disorder of copper metabolism that predominates in adolescents (1). It is characterized by copper metabolism disorders that cause excessive deposition of copper in the body, primarily involving the liver, central nervous system, kidneys and cornea, and lesions that are typically found in brain, liver, kidney and cornea. Due to the different and varying amounts of copper ions deposited in various organs, the clinical manifestations vary widely. Can have more extensive nervous system damage