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）

计量
- 文章访问数: 13
- HTML全文浏览量: 3
- PDF下载量: 3
- 被引次数: 0
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

HTML全文

参考文献(17)

[1]	YANG X. Update on diagnosis and treatment of Wilson disease in China[J]. J Clin Hepatol, 2013, 29( 12): 905- 908. DOI: 10.3969/j.issn.1001-5256.2013.12.008. 杨旭. 更新观念, 提高我国肝豆状核变性诊治的临床水平[J]. 临床肝胆病杂志, 2013, 29( 12): 905- 908. DOI: 10.3969/j.issn.1001-5256.2013.12.008.
[2]	YANG RM. Wilson disease[M]. Beijing: People’s Medical Publishing House, 2015. 杨任民. 肝豆状核变性[M]. 北京: 人民卫生出版社, 2015.
[3]	SCHILSKY ML, ROBERTS EA, BRONSTEIN JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases[J]. Hepatology, 2023, 77( 4): 1428- 1455. DOI: 10.1002/hep.32805.
[4]	European Association for the Study of the Liver. EASL-ERN clinical practice guidelines on Wilson’s disease[J]. J Hepatol, 2025, 82( 4): 690- 728. DOI: 10.1016/j.jhep.2024.11.007.
[5]	SHRIBMAN S, MARJOT T, SHARIF A, et al. Investigation and management of Wilson’s disease: A practical guide from the British Association for the Study of the Liver[J]. Lancet Gastroenterol Hepatol, 2022, 7( 6): 560- 575. DOI: 10.1016/S2468-1253(22)00004-8.
[6]	YANG RM, FENG T, CAI W, et al. Chinese multidisciplinary expert consensus on orphan/anticopper drugs and other non-drug management of hepatolenticular degeneration[J]. Curr Neuropharmacol, 2025, 23( 13): 1683- 1708. DOI: 10.2174/011570159X349587250311072553.
[7]	YE WF, YANG RM. Clinical study on 537 cases of hepatolenticular degeneration in Chinese[J]. Anhui Med J, 1983, 4( 1): 61. 叶维法, 杨任民. 中国人肝豆状核变性537例临床探讨[J]. 安徽医学, 1983, 4( 1): 61.
[8]	DI DATO F, IORIO R. Wilson disease: Many guidelines but still many unsolved doubts[J]. Dig Liver Dis, 2021, 53( 1): 139- 140. DOI: 10.1016/j.dld.2020.11.002.
[9]	YUAN XZ, YANG RM, WANG XP. Management perspective of Wilson’s disease: Early diagnosis and individualized therapy[J]. Curr Neuropharmacol, 2021, 19( 4): 465- 485. DOI: 10.2174/1570159X18666200429233517.
[10]	LI GY, WU R, TONG R, et al. Quantitative measurement of metal accumulation in brain of patients with Wilson’s disease[J]. Mov Disord, 2020, 35( 10): 1787- 1795. DOI: 10.1002/mds.28141.
[11]	JING XZ, LI GY, WU YP, et al. Free water imaging as a novel biomarker in Wilson’s disease: A cross-sectional study[J]. Parkinsonism Relat Disord, 2023, 106: 105234. DOI: 10.1016/j.parkreldis.2022.105234.
[12]	SU DN, ZHANG ZJ, ZHANG Z, et al. Distinctive pattern of metal deposition in neurologic Wilson disease: Insights from 7T susceptibility-weighted imaging[J]. Neurology, 2024, 102( 12): e209478. DOI: 10.1212/WNL.0000000000209478.
[13]	CAI HX, CHENG X, WANG XP. ATP7B gene therapy of autologous reprogrammed hepatocytes alleviates copper accumulation in a mouse model of Wilson’s disease[J]. Hepatology, 2022, 76( 4): 1046- 1057. DOI: 10.1002/hep.32484.
[14]	WANG SH, WANG XP. Generation of an induced pluripotent stem cell(iPSC) line(THSJTUi001-A) from a Wilson’s disease patient harboring a homozygous Arg778Leu mutation in ATP7B gene[J]. Stem Cell Res, 2020, 49: 102050. DOI: 10.1016/j.scr.2020.102050.
[15]	WEI R, YANG JY, CHENG CW, et al. CRISPR-targeted genome editing of human induced pluripotent stem cell-derived hepatocytes for the treatment of Wilson’s disease[J]. JHEP Rep, 2021, 4( 1): 100389. DOI: 10.1016/j.jhepr.2021.100389.
[16]	European Association for the Study of the Liver. EASL clinical practice guidelines: Wilson’s disease[J]. J Hepatol, 2012, 56( 3): 671- 685. DOI: 10.1016/j.jhep.2011.11.007.
[17]	WANG XP. Diagnosis and treatment of hepatolenticular degeneration Wang Xiaoping 2019 view[M]. Beijing: Scientific and Technical Documents Publishing House, 2019. 王晓平. 肝豆状核变性诊疗王晓平2019观点[M]. 北京: 科学技术文献出版社, 2019.