临床肝胆病杂志2026，Vol.42Issue(3)：497-501,5.DOI:10.12449/JCH260301
肝豆状核变性的诊疗进展与挑战
Advances and challenges in the diagnosis and treatment of Wilson disease
摘要
Abstract
Wilson disease(WD)is a disorder of copper metabolism caused by mutations in the ATP7B gene.Traditional diagnosis mainly relies on the Leipzig scoring system,while copper chelators and zinc preparations are mainly used for treatment.In recent years,the continuous emergence of various techniques has provided additional tools for the early detection and disease assessment of WD,such as novel assays targeting non-ceruloplasmin-bound copper,immunohistochemistry for metallothionein in liver tissue,and 64Cu positron emission tomography-computed tomography imaging.Meanwhile,the new formulation trientine tetrahydrochloride and the potential novel agent methanobactin provide new drugs for safe and efficient copper removal,and gene therapy has brought new hope for clinical cure of WD.This article systematically reviews the recent advances in the diagnosis and treatment of WD,discusses their advantages and limitations in a real-world setting,and proposes new ideas for future clinical practice and research.关键词
肝豆状核变性/诊断/治疗学Key words
Hepatolenticular Degeneration/Diagnosis/Therapeutics引用本文复制引用
侯维,郑素军..肝豆状核变性的诊疗进展与挑战[J].临床肝胆病杂志,2026,42(3):497-501,5.基金项目
国家重点研发计划(2022YFC2304400) （2022YFC2304400）
北京市医院管理中心"登峰"计划专项(DFL20241701) National Key Research and Development Program(2022YFC2304400) （DFL20241701）
Beijing Hospitals Authority's Ascent Plan(DFL20241701) （DFL20241701）
