肝豆状核变性

定义 英文原文（暂无中文）

A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.

别名

肝豆状核变性

基本事实

遗传方式

常染色体隐性

发病年龄

青少年期、成年期、儿童期、老年期

患病率

1-9 / 100 000

相关基因 1

临床表型 57

近两年的全球研究 1,643L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-08
  Phenotype-specific white matter microstructural alterations and their clinical correlates in Wilson disease
  Scientific reports · DOI · Europe PMC
• 2026-08
  APASL STC on Wilson Disease; New Delhi 2026
  Hepatology international · DOI · Europe PMC
• 2026-07综述
  Copper homeostasis and cuproptosis: New perspectives on the diagnosis and treatment of metabolic diseases
  Journal of trace elements in medicine and biology : organ of the Socie · DOI · Europe PMC
• 2026-07
  From one-size-fits-all to on-demand: personalized crispr gene editing for rare genetic liver diseases
  Clinics and research in hepatology and gastroenterology · DOI · Europe PMC
• 2026-07综述
  Ocular Manifestations of Wilson Disease: Pathophysiology, Clinical and Paraclinical Features
  Journal of gastrointestinal and liver diseases : JGLD · DOI · Europe PMC
• 2026-07综述
  Ceruloplasmin and neurodegeneration: A link between copper dysregulation, iron imbalance, and neuronal damage
  Journal of trace elements in medicine and biology : organ of the Socie · DOI · Europe PMC
• 2026-07
  Wilson disease revealed after febrile scrub typhus infection: the value of slit-lamp examination in pediatric encephalopathy
  Neurological sciences : official journal of the Italian Neurological S · DOI · Europe PMC
• 2026-07
  Evaluation of Glymphatic System Activity in Pediatric Wilson Disease Patients Using Diffusion Tensor Imaging Along the Perivascular Space
  Clinical neuroradiology · DOI · Europe PMC
• 2026-07
  Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants
  Clinical and experimental pediatrics · DOI · Europe PMC
• 2026-07
  Copper-deficiency anemia and neutropenia during zinc maintenance therapy for Wilson disease associated with persistent strict dietary copper restriction
  Clinical journal of gastroenterology · DOI · Europe PMC
• 2026-07病例报告
  A 31-Year-Old Woman With Liver Cirrhosis Due to Wilson Disease and the Double Impact of Active Tuberculosis and Anti-Tuberculosis Therapy Resulting in Acute Liver Injury
  The American journal of case reports · DOI · Europe PMC
• 2026-07病例报告
  Expanding the spectrum of the giant panda sign: a bright-eye variant in Wilson disease
  Radiology case reports · DOI · Europe PMC
• 2026-07病例报告
  Losartan-Associated Sub-fulminant Hepatitis: A Case Report
  Cureus · DOI · Europe PMC
• 2026-07
  Referral-spectrum Effect in Hypercupriuric Referrals for Suspected Wilson Disease: Diagnostic Implications for Ceruloplasmin and 24-hour Urinary Copper Excretion
  Journal of clinical and translational hepatology · DOI · Europe PMC
• 2026-07病例报告
  Long-term misdiagnosis of Niemann-Pick disease type C as Wilson disease: A case report
  Medicine · DOI · Europe PMC
• 2026-07
  Analysis of end-stage renal disease mediated by cuproptosis-related genes
  Clinical nephrology · DOI · Europe PMC
• 2026-07
  Defining Actionable Non-Adherence in Wilson Disease
  Liver international : official journal of the International Associatio · DOI · Europe PMC
• 2026-07系统综述综述
  Diagnostic challenges in progressive familial intrahepatic cholestasis type 3 (PFIC3) misdiagnosed as Wilson's disease: A systematic review
  Advances in clinical and experimental medicine : official organ Wrocla · DOI · Europe PMC
• 2026-06
  Liver transplant for paediatric acute liver failure: insights from a newly established paediatric liver transplant program in a developing country
  BMC pediatrics · DOI · Europe PMC
• 2026-06
  Wilson disease presenting with isolated neurological manifestations
  Medicina clinica · DOI · Europe PMC

境外已获批用于本病的药物 3L2

欧盟 3 项、美国 0 项。同一药物在两地各批一次的，会分别列出。

• Wilzin欧盟2004-10-12
  zinc
  官方记录
• Cuprior欧盟2017-09-05
  trientine
  官方记录
• Cufence欧盟2019-07-25
  trientine dihydrochloride
  官方记录

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 16L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 10

• 招募中NCT04965558
  Clinical Features and Outcome in Patients With Osseomuscular Type of Wilson's Disease
  观察性 · 2004/01/01Second Affiliated Hospital, Zhejiang University, School of Medicine
  中国研究中心 1 个：Hangzhou
• 招募中NCT04965545
  Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
  观察性 · 2004/01/01Second Affiliated Hospital, Zhejiang University, School of Medicine
  中国研究中心 1 个：Hangzhou
• 招募中NCT03131427
  China Registry for Genetic / Metabolic Liver Diseases
  观察性 · 2015/06/13Beijing Friendship Hospital
  中国研究中心 12 个：Beijing、Chengdu、Guangzhou、Shanghai、Shijiazhuang、Tianjin 等 8 地
• 招募中NCT04012658
  A Registered Cohort Study on Wilson's Disease
  观察性 · 2019/07/01Wan-Jin Chen
  中国研究中心 1 个：Fuzhou
• 尚未开始招募NCT06196931
  Clinical Value of DWI-ADC Matching in the Short-term Prognosis of Wilson's Disease
  观察性 · 2024/01/01Hospital Affiliated to the Institute of Neurology, Anhui University of Chinese Medicine
  中国研究中心 1 个：Hefei
• 招募中NCT06650319
  A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease
  早期 I 期 · 干预性 · 2024/09/24Chaohui Yu
  中国研究中心 1 个：Hangzhou
• 尚未开始招募NCT07173933
  Phase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson's Disease (WD)
  I 期、II 期 · 干预性 · 2025/10GeneCradle Inc
  中国研究中心 1 个：Beijing
• 招募中NCT07240896
  A Clinical Study on the Treatment of Wilson Disease With ATP7B mRNA/LNP (DSL101)
  早期 I 期 · 干预性 · 2025/12/31DSciLab Co., Ltd.
  中国研究中心 1 个：Hefei
• 尚未开始招募NCT07641140
  Phase I/II Clinical Study to Evaluate the Safety, Tolerability and Efficacy of LY-M003 Injection in Adult Patients With Wilson's Disease
  I 期、II 期 · 干预性 · 2026/06/15Lingyi Biotech Co., Ltd.
  中国研究中心 1 个：Hangzhou
• 尚未开始招募NCT07465718
  Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson's Disease Patients.
  III 期 · 干预性 · 2026/08Orphalan
  中国研究中心 3 个：Beijing、Hangzhou

中国境外的在招试验 30L2

CT.gov 报告命中 30 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07748403
  A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD)
  I 期、II 期 · 干预性 · 2026/08Prime Medicine, Inc.
  新西兰
• 尚未开始招募NCT07208565
  Endocrine Dysfunction in Pediatric Wilson's Disease
  观察性 · 2026/06/30Assiut University
• 尚未开始招募NCT07476417
  Oral Health, Dento-facial Condition and OHRQoL in Subjects With Mowat-Wilson Syndrome: an Epidemiologic Study.
  观察性 · 2026/04/01University of Milan
  意大利
• 尚未开始招募NCT07075393
  Description of Renal Involvement in Wilson's Disease
  观察性 · 2026/02Fondation Ophtalmologique Adolphe de Rothschild
  法国
• 招募中NCT07301216
  Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study
  观察性 · 2026/01/08Yale University
  美国
• 尚未开始招募NCT07241832
  Multifaceted Assessment of Patients With Wilson's Disease in a Low-Resource Setting in Upper Egypt: Service Integration, Psychosocial Burden, Dietary Practices, and the Geo-Spatial Disease Map
  观察性 · 2025/12/01Assiut University
• 招募中NCT06945081
  Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
  不适用 · 干预性 · 2025/11/28Centre Hospitalier Universitaire de Saint Etienne
  法国
• 招募中NCT06858670
  Effectiveness of Auxiliary Segmental Lingual Appliances in Leveling the Curve of Wilson at Second Molars
  不适用 · 干预性 · 2025/03/01Hanoi Medical University
  Vietnam
• 招募中NCT06430359
  Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients
  观察性 · 2025/01/10Hospices Civils de Lyon
  法国
• 尚未开始招募NCT06698991
  Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children
  不适用 · 干预性 · 2024/11/10Institute of Liver and Biliary Sciences, India
  印度
• 招募中NCT06573723
  Institutional Registry of Rare Diseases
  观察性 · 2024/07/01Hospital Italiano de Buenos Aires
  阿根廷
• 尚未开始招募NCT06051734
  Early Detection of Cardiac Affection in Patients of Wilson's Disease
  观察性 · 2023/10/01Assiut University
• 招募中NCT05444127
  Oral Health and Wilson's Disease: SOMAWI
  观察性 · 2023/05/17Fondation Ophtalmologique Adolphe de Rothschild
  法国
• 招募中NCT05493605
  Cardiac Involvement in Wilson's Disease
  不适用 · 干预性 · 2023/03/02Fondation Ophtalmologique Adolphe de Rothschild
  法国
• 招募中NCT05239858
  International Wilson's Disease Patient Registry (iWilson Registry)
  观察性 · 2022/06/29Orphalan
  比利时、法国、德国、波兰、沙特阿拉伯、西班牙、英国

外部标识与链接