肝豆状核变性，又称威尔逊病(Wilson disease，WD)，是由ATP7B基因突变导致铜排泄障碍的常染色体隐性遗传病。目前肝豆状核变性全球发病率约1/30 000，但ATP7B基因突变携带频率约1/90。WD临床主要表现为急慢性肝病、神经系统损害以及肾功能损害等，属于早期诊断和治疗即可得到良好控制的遗传性疾病，故早期诊断及治疗十分重要。但由于其基因型与表型均较复杂，临床上易误诊而延误治疗。在肝豆状核变性的诊断上，目前尚无单一诊断标准可确诊该病，诊断上常使用莱比锡诊断评分系统。近年来对该病的诊断方法又有新的补充，有研究证实通过使用ATP7B肽来测量ATP7B蛋白浓度可作为肝豆状核变性的新的诊断方法，有助于早期精确诊断。“,”Hepatolenticular degeneration, also known as Wilson disease(WD), is an autosomal recessive disease with copper excretion disorder caused by ATP7B gene mutation.At present, the global incidence of hepatolenticular degeneration is about 1/30 000, but the frequency of ATP7B gene mutation is about 1/90.WD mainly manifests clinically as acute and chronic liver disease, neurological damage and renal impairment, etc.It is a genetic disease that can be well controlled by early diagnosis and treatment, so early diagnosis and treatment are important.However, because of its complex genotype and phenotype, it is easy to be misdiagnosed and delayed treatment.There is no single diagnostic standard for diagnosis of WD at the moment.The Leipzig diagnostic scoring system is often used for diagnosis.In recent years, there has been a new supplement to the diagnostic methods of WD.Some studies have confirmed that measuring the concentration of ATP7B protein by using ATP7B peptide can be used as a new diagnostic method for hepatolenticular degeneration, which is helpful for early accurate diagnosis.