肝豆状核变性(Wilson’s disease,WD)是一种铜代谢障碍的常染色体隐性遗传疾病,1993年发现ATP7B基因,编码一种P型铜转运ATP酶,该基因突变可导致铜排泌障碍[1],从而导致铜在体内蓄积,对肝、脑、肾及其他器官造成损伤。一般认为,WD的最大发病年龄<40岁,但年龄>40岁同时出现神经精神症状以及生化、组织病理改变的患者,也应进一步行WD的筛查[2]。现 Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. In 1993, it was found that the ATP7B gene, encoding a P-type copper transport ATPase, can cause copper excretion disorder [1], resulting in the accumulation of copper in the body, causing damage to the liver, brain, kidney and other organs. It is generally believed that the maximum age of onset of WD <40 years old, but age> 40 years old with neuropsychiatric symptoms and biochemical, histopathological changes in patients should also be further screening for WD [2]. Now