血管性血友病3型

定义

3型血管性血友病(3型VWD)是VWD(见该词条)中最严重的一种，其特征是与血浆和细胞区室内完全或几乎完全缺乏血友病因子(血管性血友病因子；VWF)相关的出血性疾病。该病也导致血浆因子VIII(FVIII)的严重缺乏。

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期、新生儿期

患病率

1-9 / 1 000 000

相关基因 1

近两年的全球研究 17L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 17 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-06综述病例报告
  Recurrent Hemothorax in a Patient with von Willebrand's Disease: Case Report and Literature Review
  The Journal of the Association of Physicians of India · DOI · Europe PMC
• 2026-01开放获取
  Efficacy and Safety of Prophylaxis With a Plasma-Derived von Willebrand Factor/Factor VIII Concentrate (Wilate) in Patients With Type 3 von Willebrand Disease-A WIL-31 Study Sub-Analysis
  European journal of haematology · DOI · Europe PMC
• 2025-12
  [Analysis of <i>VWF</i> Gene c.7332G>A Nonsense Mutation Pedigree and Study of Molecular Pathogenesis]
  Zhongguo shi yan xue ye xue za zhi · DOI · Europe PMC
• 2025-12病例报告开放获取
  Subsequent Primary Hematologic Malignancies in a 21-Year-Old Retinoblastoma Survivor: Case Report Study
  Cancer reports (Hoboken, N.J.) · DOI · Europe PMC
• 2025-11病例报告
  Genetically Confirmed Dual Hematologic Disorder: A Case of β-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient
  Hemoglobin · DOI · Europe PMC
• 2025-11病例报告
  Successful desensitization with FVIII/Von Willebrand Factor concentrate in Type III Von Willebrand Disease
  Allergologia et immunopathologia · DOI · Europe PMC
• 2025-10病例报告开放获取
  Left Renal Artery Thrombosis in a Patient With von Willebrand Disease Type 3 and Factor V Leiden Heterozygosity
  Cureus · DOI · Europe PMC
• 2025-10开放获取
  Developing Entrustable Professional Activities for Hematology Residency Program in a Low-Resource Setting: A Modified Delphi Study
  Journal of advances in medical education & professionalism · DOI · Europe PMC
• 2025-07
  A phase 1, open-label study to assess the pharmacokinetics, safety, and tolerability of a single intravenous injection of efanesoctocog alfa in adults with type 2N or type 3 von Willebrand disease
  Journal of thrombosis and haemostasis : JTH · 被引 3 · DOI · Europe PMC
• 2025-06病例报告
  Management of gastrointestinal bleeding in a patient with type 3 von Willebrand disease and inhibitors to von Willebrand factor: a case report
  Blood coagulation & fibrinolysis : an international journal in haemost · DOI · Europe PMC
• 2025-06
  A VWF missense variant in Havanese dogs with type 3 von Willebrand disease
  Animal genetics · DOI · Europe PMC
• 2025-05病例报告开放获取
  A 4-Week-Old Female Infant with Type 3 von Willebrand Disease Presenting with Nosebleeds and Uncontrolled Bleeding Following Surgical Frenectomy: A Clinical Case
  The American journal of case reports · DOI · Europe PMC
• 2025-03综述开放获取
  The Role of Platelet Dysfunctions in the Pathogenesis of the Hemostatic-Coagulant System Imbalances
  International journal of molecular sciences · 被引 8 · DOI · Europe PMC
• 2024-12
  Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand
  Journal of clinical pathology · 被引 1 · DOI · Europe PMC
• 2024-10病例报告
  Diagnosis of type III von Willebrand disease in a standard dachshund
  The Journal of small animal practice · DOI · Europe PMC
• 2024-10开放获取
  Expanding families: a pilot study on preconception expanded carrier screening in Bahrain
  BMC pregnancy and childbirth · 被引 1 · DOI · Europe PMC
• 2024-10开放获取
  Prevalence and characterization of anti-VWF antibodies in a population of patients with type 3 VWD
  Blood advances · 被引 1 · DOI · Europe PMC

中国境外的在招试验 7L2

共 7 项。

• 招募中NCT07115004
  Study to Evaluate Subcutaneous (SC) VGA039 in Patients With Von Willebrand Disease (VWD)
  III 期 · 干预性 · 2025/10/15Vega Therapeutics, Inc
  Georgia、德国、南非、美国
• 招募中NCT06998524
  A Study to Assess the Efficacy and Safety of Emicizumab in Participants With Type 3 Von Willebrand Disease
  III 期 · 干预性 · 2025/06/27Hoffmann-La Roche
  比利时、加拿大、哥伦比亚、法国、德国、意大利、日本、荷兰 等 14 国
• 招募中NCT06754852
  A Study Assessing HMB-002 in Participants With Von Willebrand Disease
  I 期、II 期 · 干预性 · 2025/02/06Hemab ApS
  澳大利亚、英国、美国
• 招募中NCT05582993
  A Study of Vonicog Alfa (rVWF) in Children With Severe Von Willebrand Disease (vWD)
  III 期 · 干预性 · 2024/11/06Takeda
  法国、爱尔兰、意大利、日本、英国、美国
• 招募中NCT06610201
  A Study of Bleeding and Treatment in Participants With Von Willebrand Disease
  观察性 · 2024/08/30Hemab ApS
  澳大利亚、英国、美国
• 招募中NCT05500807
  Emicizumab for Severe Von Willebrand Disease (VWD) and VWD/Hemophilia A
  I 期 · 干预性 · 2022/11/01Bleeding and Clotting Disorders Institute Peoria, Illinois
  美国
• 招募中NCT05437536
  The Severe Von Willebrand Disease (sVWD) Patient Registry
  观察性 · 2021/12/10VWD Connect Foundation
  美国

外部标识与链接