Glanzmann血小板减少症

定义 英文原文（暂无中文）

Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.

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

相关基因 2

临床表型 20

近两年的全球研究 226L2

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。

• 2026-09
  Refractory Iron-deficiency anemia and intermittent melena in phenotypic type 2 Glanzmann thrombasthenia: a diagnostic challenge
  Revista espanola de enfermedades digestivas · DOI · Europe PMC
• 2026-09开放获取
  A Boolean Seven-Layer Platelet Decision Model Models Consistently the Logic and Semiquantitatively the Dynamics of Platelet Activation and Inhibition
  Computational and structural biotechnology journal · DOI · Europe PMC
• 2026-09
  First Report of Left Atrial Appendage Closure in a Patient With Glanzmann Thrombasthenia
  Haemophilia : the official journal of the World Federation of Hemophil · DOI · Europe PMC
• 2026-09综述开放获取
  Synergistic Regulation of Tumor Immunity by Integrins and Lectins: From Molecular Mechanisms to Dual-Targeted Therapy
  International journal of molecular sciences · DOI · Europe PMC
• 2026-09开放获取
  Achieving Faster Bleeding Disorder Treatment in the Emergency Department: A Quality Improvement Initiative
  Pediatric quality & safety · DOI · Europe PMC
• 2026-09
  Reduced platelet formation associated with serine metabolic dysregulation in integrin αIIbβ3-deficient megakaryocytes
  Blood · 被引 1 · DOI · Europe PMC
• 2026-08病例报告开放获取
  A rare case of multiple bladder hemangiomas associated with Glanzmann thrombasthenia: Successful control of refractory hematuria by super selective vesical artery embolization
  Urology case reports · DOI · Europe PMC
• 2026-08开放获取
  Pregnancy outcomes among women with inherited bleeding disorders: A matched case-control study
  SAGE open medicine · DOI · Europe PMC
• 2026-08综述开放获取
  Lipid-Based Delivery Systems for Therapeutic Glycoproteins: Current Advances, Challenges, and Future Perspectives
  Pharmaceutics · DOI · Europe PMC
• 2026-08综述开放获取
  Thromborepair: the tissue repair partner to thromboinflammation
  Blood vessels, thrombosis & hemostasis · DOI · Europe PMC
• 2026-07
  Novel/Recurrent Variants in Pakistani Glanzmann Thrombasthenia and Glanzmann-like Bleeding Diathesis: Insights from NGS Analysis
  Thrombosis and haemostasis · DOI · Europe PMC
• 2026-07开放获取
  Thrombosis in rare bleeding disorders: a bleeding phenotype does not fully preclude thrombotic risk- frequency, clinical contexts, and management in a large Iranian cohort
  Thrombosis journal · DOI · Europe PMC
• 2026-07综述开放获取
  Dietary bioactive compounds targeting insulin resistance: mechanisms and preventive potential
  Frontiers in nutrition · DOI · Europe PMC
• 2026-07综述
  [Hereditary disorders of hemostasis in obstetrics 1/2-Anesthesiological aspects of primary hemostasis]
  Die Anaesthesiologie · 被引 1 · DOI · Europe PMC
• 2026-07综述开放获取
  Beyond Hemostasis: Platelets' Multifaceted Functions in Immune Responses
  Life (Basel, Switzerland) · DOI · Europe PMC
• 2026-07综述
  Methodological Considerations in Platelet Flow Cytometric Studies
  International journal of laboratory hematology · DOI · Europe PMC
• 2026-07开放获取
  Dual hemostatic defects in Glanzmann thrombasthenia and von Willebrand disease: functional characterization of ITGA2B and dominant-negative von Willebrand factor variants
  Research and practice in thrombosis and haemostasis · DOI · Europe PMC
• 2026-07开放获取
  Long-term outcomes and GVHD in allogeneic hematopoietic cell transplantation abroad: a 14-year UAE multi-center cohort
  BJC reports · DOI · Europe PMC
• 2026-07开放获取
  Transcriptomics-based identification of shared biomarkers across type 2 diabetes, mild cognitive impairment, and uric acid metabolism
  Experimental biology and medicine (Maywood, N.J.) · DOI · Europe PMC
• 2026-07综述
  Testing for Non-Severe Heritable Platelet Function Disorders
  International journal of laboratory hematology · DOI · Europe PMC

国家医保药品目录中点名本病的药品 1L2

出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。

• 注射用重组人凝血因子Ⅶa乙类西药
  限下列患者群体出血的治疗，以及外科手术或有创操作出血的防治：1.凝血因子Ⅷ或Ⅸ的抑制物＞5个Bethesda单位(BU)的先天性血友病患者；预计对注射凝血因子Ⅷ或凝血因子Ⅸ，具有高记忆应答的先天性血友病患者；2.获得性血友病患者；3.先天性凝血因子Ⅶ(FⅦ)缺乏症患者；4.具有血小板膜糖蛋白Ⅱb-Ⅲa(GPⅡb-Ⅲa)和/或人白细胞抗原(HLA)抗体和既往或现在对血小板输注无效或不佳的血小板无力症患者。

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

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。

中国境外的在招试验 5L2

共 5 项。

• 招募中NCT07136857
  Eptacog Beta in Glanzmann's (HeT_LFB-Strength-Study_FID531)
  II 期 · 干预性 · 2025/10/02Emory University
  美国
• 招募中NCT06820515
  ATHNdataset Registry
  观察性 · 2024/10/25American Thrombosis and Hemostasis Network
  美国
• 尚未开始招募NCT06204042
  Multinational Glanzmann Study
  观察性 · 2024/03/01UMC Utrecht
• 招募中NCT04119908
  Videomicroscopy for the Prediction of Bleeding in Constitutional Haemorrhagic Diseases
  不适用 · 干预性 · 2023/05/24University Hospital, Lille
  法国
• 招募中NCT00230165
  The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.
  观察性 · 2005/09Rockefeller University
  美国

外部标识与链接