Hepatolenticular degeneration, also known as Wilson's disease, is a type of autosomal recessive genetic disorder of copper metabolism. The causative gene, ATP7B, is located on the long arm of chromosome 13 and encodes a P-type ATPase that is involved in copper transport. Pathogenic mutations in the ATP7B gene sequence lead to the diminished or lost function of the ATP7B protein, resulting in pathological copper deposition in organs such as the liver, brain, kidneys, and cornea. Currently, the treatment of Wilson's disease primarily involves oral medications to promote copper excretion or reduce copper absorption so as to alleviate the state of illness. However, pharmacological treatment has objective limitations, including the need for lifelong therapy and varying degrees of adverse drug reactions in some patients. Gene therapy can fully correct the genetic defect, restore ATP7B protein function, achieve a curative effect, and improve the patient's quality of life.
肝豆状核变性，又称为威尔逊氏症，是一种常染色体隐性遗传的铜代谢障碍性疾病。其致病基因ATP7B位于13号染色体长臂上，编码参与铜转运的P型ATP酶。ATP7B基因序列的致病突变会使ATP7B蛋白功能减弱或丧失，导致铜在肝脏、脑、肾脏、角膜等器官产生病理性沉积。目前肝豆状核变性的治疗主要使用口服药物促进铜排出或减少铜吸收，以缓解病情。但是药物治疗存在客观局限性，包括需终身治疗和部分患者存在不同程度的药物不良反应。基因治疗可以彻底纠正患者的基因缺陷，恢复ATP7B蛋白功能，达到治愈性效果，提高患者的生活质量。.