肝豆状核变性的诊疗进展与挑战

侯维; 郑素军

doi:10.12449/JCH260301

肝豆状核变性的诊疗进展与挑战

DOI: 10.12449/JCH260301

侯维,
郑素军^, ,

首都医科大学附属北京佑安医院肝病中心一科，北京 100069

基金项目:

国家重点研发计划 (2022YFC2304400);

北京市医院管理中心“登峰”计划专项 (DFL20241701)

利益冲突声明：本文不存在任何利益冲突。

作者贡献声明：侯维负责文献查阅，撰写初稿；郑素军负责设计论文框架和思路，指导撰写、修改文章并最后定稿。

详细信息

通信作者:
郑素军， zhengsujun003@126.com （ORCID： 0000-0002-8228-2819）

计量
- 文章访问数: 25
- HTML全文浏览量: 8
- PDF下载量: 5
- 被引次数: 0
出版历程
- 收稿日期: 2025-12-18
- 录用日期: 2026-01-22
- 出版日期: 2026-03-25

Advances and challenges in the diagnosis and treatment of Wilson disease

Wei HOU,
Sujun ZHENG^{,
,}

First Department of Liver Disease Center，Beijing YouAn Hospital，Capital Medical University，Beijing 100069，China

Research funding:

National Key Research and Development Program (2022YFC2304400);

Beijing Hospitals Authority’s Ascent Plan (DFL20241701)

More Information

Corresponding author: ZHENG Sujun， zhengsujun003@126.com （ORCID： 0000-0002-8228-2819）

摘要

摘要: 肝豆状核变性是一种由铜转运腺苷三磷酸酶β基因变异导致的铜代谢障碍性疾病，传统诊断主要依赖莱比锡评分，治疗则以铜螯合剂和锌制剂为主。近年来，围绕非铜蓝蛋白结合铜的多种新检测方法、肝组织金属硫蛋白免疫组化以及⁶⁴Cu正电子发射断层显像-计算机体层成像等技术不断涌现，为肝豆状核变性的早期识别与病程评估提供了更多工具。同时，新剂型四盐酸曲恩汀和潜在新药甲烷氧化菌素，为安全、高效驱铜提供了新的药物选择，而基因治疗为临床治愈肝豆状核变性带来了曙光。本文系统综述了肝豆状核变性的诊断与治疗进展，讨论其在真实世界应用中的优势与局限，并对未来临床实践与研究方向提出了思考。
- 肝豆状核变性 /
- 诊断 /
- 治疗学
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.
- Hepatolenticular Degeneration /
- Diagnosis /
- Therapeutics

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参考文献(26)

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