威尔逊病治疗的研究进展

Advances in the treatment of Wilson disease

威尔逊病(Wilson disease,WD)是由ATP7B基因突变引起的遗传性疾病,其特征是铜在全身器官,尤其是肝脏和大脑中的病理性沉积。该文介绍了WD已有治疗方法和新兴治疗手段的最新进展。当前临床最常用的治疗WD的方法为口服铜螯合剂和锌剂,肝移植可作为终末期患者的治疗手段。但这些治疗方法均有不足之处:药物的不良反应多、治疗效果不佳、需终身治疗、患者依从性较差等。目前对于药物的选择仍处于探索阶段,尚无指南明确规定何种患者应使用何种治疗方法。除此之外,有许多新兴的治疗手段正处于不同的实验阶段,如新的铜螯合剂、靶向分子治疗、基因治疗和细胞移植等。沿用已久的治疗方法缺点颇多且缺少大型临床对照研究,而新兴研究仍在起始阶段,这些都是亟待解决的问题。

Wilson disease(WD)is an inherited disorder caused by mutations in the ATP7B gene.It is characterized by pathological accumulation of copper in the organs throughout the body,especially the liver and brain.This article reviews the latest progress of existing and emerging therapies.At present,the most commonly used treatment methods are oral chelators of copper and zinc agents.Liver transplantation can be used as a treatment for end-stage patients.However,these treatment methods have some shortcomings:many side effects of drugs,poor treatment effect,lifelong treatment,poor patient compliance and so on.At present,the choice of drugs is still in the exploratory stage,and there are no guidelines to specify which patients should receive which treatment.In addition,there are many emerging therapies in different experimental stages,such as new chelators of copper,targeted molecular therapy,gene therapy and cell transplantation.The old methods have many disadvantages and lack large controlled clinical trials,and emerging research is still in its infancy,which are urgent questions.