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肝豆状核变性又称Wilson病(Wilson Disease,WD),是一种常染色体隐性遗传的铜代谢疾病。患者13号染色体上的ATP7B基因突变,肝脏铜代谢异常而导致铜在体内过量蓄积,进而产生一系列症状。自从100年前第一例Wilson病被描述以来,该病复杂多样的临床表现一直困扰着医生。WD起病表现可以是肝脏疾病、运动障碍、精神疾病,也可以是反复发作的溶血性贫血。肝豆状核变性的临床肝脏疾病表现种类复杂多样,
Wilson’s disease, also known as Wilson’s disease (Wilson Disease, WD), is an autosomal recessive inherited form of copper metabolism. Patient 13 chromosome on the ATP7B gene mutation, abnormal liver metabolism of copper leading to excessive accumulation of copper in the body, resulting in a series of symptoms. Since the first case of Wilson’s disease was described 100 years ago, the complex and diverse clinical manifestations of the disease have plagued physicians. WD onset manifestations can be liver disease, dyskinesia, mental illness, can also be recurrent hemolytic anemia. Hepatolenticular degeneration clinical liver disease performance complex species diversity,