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 1,834L2

2024/10 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。

• 2026-11开放获取
  Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method
  Journal of inherited metabolic disease · DOI · Europe PMC
• 2026-10
  Correction: CRISPR/Cas9-mediated gene correction of Wilson disease H1069Q point mutation in patient-specific induced pluripotent stem cells
  Gene therapy · DOI · Europe PMC
• 2026-10
  Genome-wide transcriptomics and a machine learning-based random forest model identify novel biomarkers to predict phenotypic variability in Wilson disease
  Human immunology · DOI · Europe PMC
• 2026-10
  Eriocitrin Attenuates Diabetic Cardiomyopathy by Regulating Copper Homeostasis and Cuproptosis-Associated Pathways via SIRT7/YAP/ATP7A Signalling
  Basic & clinical pharmacology & toxicology · DOI · Europe PMC
• 2026-10
  Analysis of end-stage renal disease mediated by cuproptosis-related genes
  Clinical nephrology · 被引 1 · DOI · Europe PMC
• 2026-09开放获取
  Restoring brain functions in the Mo-blo mouse model of Menkes disease with copper nanoclusters
  Science advances · DOI · Europe PMC
• 2026-09开放获取
  Bio-Memristor Based on Clinical Bile Samples: A Proof-of-Concept Pilot Study for Detection of Gallbladder Cancer
  Advanced science (Weinheim, Baden-Wurttemberg, Germany) · DOI · Europe PMC
• 2026-09开放获取
  Copper-Driven Epithelial Barrier Disruption: A Novel Mechanism of COPD Acute Exacerbations Mediated by the TNF-α/ATP7A Axis
  Advanced science (Weinheim, Baden-Wurttemberg, Germany) · DOI · Europe PMC
• 2026-09
  Disrupted copper homeostasis promotes osteopontin-mediated hepatocyte-stellate cell crosstalk in Wilson disease
  Cytokine · DOI · Europe PMC
• 2026-09综述开放获取
  Cuproptosis and ferroptosis: signal pathways, diseases and therapeutic targets
  Signal transduction and targeted therapy · DOI · Europe PMC
• 2026-09
  digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening
  European journal of human genetics : EJHG · DOI · Europe PMC
• 2026-09病例报告开放获取
  Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation
  BMJ case reports · DOI · Europe PMC
• 2026-09开放获取
  Neutrophil extracellular traps delivering lactylated S100a9 aggravate neuronal cuproptosis by regulating Ttr/Commd1/Atp7b axis after traumatic brain injury
  Redox biology · DOI · Europe PMC
• 2026-09开放获取
  Effects of Dietary Copper on Growth Performance, Antioxidant Capacity, Muscle Quality and the Expression of Copper-Transport and Muscle Development-Related Genes in Juvenile Red Swamp Crayfish (<i>Procambarus clarkii</i>)
  Animals : an open access journal from MDPI · DOI · Europe PMC
• 2026-09开放获取
  Genetic testing and exchangeable copper can improve the accuracy of Wilson disease diagnoses
  Hepatology communications · DOI · Europe PMC
• 2026-09开放获取
  The Childhood Liver Disease Research Network's prospective characterization of pediatric primary sclerosing cholangitis
  Hepatology communications · DOI · Europe PMC
• 2026-09
  Functional analysis of the methanobactin-encoding gene cluster of <i>Methylocystis</i> sp. strain SB2
  Microbiology spectrum · DOI · Europe PMC
• 2026-09开放获取
  SOX2 Inhibits Cuproptosis to Affect Cisplatin Resistance in Non-Small Cell Lung Cancer by Activating the Wnt/ATP7B Signaling Pathway
  The Kaohsiung journal of medical sciences · DOI · Europe PMC
• 2026-09
  Therapeutic Management of Wilson Disease in Clinical Practice: Multicenter Retrospective Real-World Data from Germany
  Zeitschrift fur Gastroenterologie · DOI · Europe PMC
• 2026-09荟萃分析开放获取
  Conserved hepatic RNA signatures across multiple cohorts reveal novel mechanistic clues for advanced fibrosis in human MASLD
  Hepatology communications · 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）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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 29L2

CT.gov 报告命中 29 项，此处取回并展示最近的 15 项。

• 招募中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 · 2026/09Prime Medicine, Inc.
  新西兰、美国
• 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
• 招募中NCT05183165
  Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease
  不适用 · 干预性 · 2022/05/11Fondation Ophtalmologique Adolphe de Rothschild
  法国

外部标识与链接