回顾和展望： 全球肝豆状核变性诊治共识/指南的异同

王晓平

doi:10.12449/JCH260302

回顾和展望：全球肝豆状核变性诊治共识/指南的异同

DOI: 10.12449/JCH260302

王晓平^, ,

上海交通大学医学院附属新华医院神经科，上海 200336

基金项目:

国家自然科学基金 (81671103);

国际帕金森病暨运动障碍协会罕见病资助项目 (MDS 2017 & 2022);

上海交通大学医学院转化医学创新中心资助项目 (2015-1)

利益冲突声明：本文不存在任何利益冲突。

详细信息

通信作者:
王晓平， wangxp@ustc.edu （ORCID： 0000-0002-2936-5877）

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出版历程
- 收稿日期: 2025-12-11
- 录用日期: 2026-01-27
- 出版日期: 2026-03-25

Similarities and differences in the diagnosis and treatment of Wilson disease across global consensus statements/guidelines： Retrospect and prospect

Xiaoping WANG^{,
,}

Department of Neurology，Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine，Shanghai 200336，China

Research funding:

National Natural Science Foundation of China (81671103);

Rare Program of Developing World Education （DWEP）, International Parkinson’s Disease & Movement Disorders Society (MDS 2017 & 2022);

Innovation Center of Translational Medicine, Shanghai JiaoTong University Medical School (2015-1)

More Information

Corresponding author: WANG Xiaoping， wangxp@ustc.edu （ORCID： 0000-0002-2936-5877）

摘要

摘要: 本文系统梳理并比较了自2022年以来国际上发布的肝豆状核变性英文诊疗共识/指南，重点聚焦于多学科专家共识/指南的推荐意见。主要包括2022年美国肝病学会发布的多学科治疗指导、2025年欧盟（欧洲肝病学会/欧洲罕见病网络）发布的临床实践指南以及2022年英国肝病学会发布的实践指导，并结合2025年中国多学科诊治肝豆状核变性的专家共识国际版进行对比分析与归纳讨论。整体而言，欧盟、美国和英国肝豆状核变性指南与中国版共识在核心内容方面基本一致，但在部分细节方面，因不同国家的经验和研究进展的差异有所不同。总之，目前全球范围内尚缺少一部以循证医学证据为主导的真正意义上的肝豆状核变性医学指南，这有待于国际间同行在未来开展更深入的研究与合作。
- 肝豆状核变性 /
- 诊断 /
- 治疗学 /
- 指导方针（主题）
Abstract: This article systematically reviews and compares the major international English consensus statements/guidelines on the diagnosis and treatment of Wilson disease published since 2022， with a focus on the recommendations from multidisciplinary expert consensus statements/guidelines. These consensus statements/guidelines mainly include the multidisciplinary treatment guidelines issued by the American Association for the Study of Liver Diseases in 2022， the clinical practice guidelines released by the European Union （European Association for the Study of the Liver/European Reference Network） in 2025， and the practice guidelines published by the British Association for Studies of the Liver in 2022， and comparative analysis and summarization were performed with reference to the 2025 edition of Chinese Multidisciplinary Expert Consensus on Orphan/Anticopper Drugs and Other Non-drug Management of Hepatolenticular Degeneration （CMEC-HLD）. Overall， the core content remained basically consistent between the guidelines of the European Union， the US， and the UK and CMEC-HLD， while many details varied due to the differences in experiences and research advances across these countries. Globally， there is still a lack of truly meaningful medical guideline for Wilson disease driven by evidence-based medicine， which requires further research and international cooperation among peers in the future.
- Hepatolenticular Degeneration /
- Diagnosis /
- Therapeutics /
- Guidelines as Topic

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参考文献(17)

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