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 205L2

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。

• 2026-07
  Novel/Recurrent Variants in Pakistani Glanzmann Thrombasthenia and Glanzmann-like Bleeding Diathesis: Insights from NGS Analysis
  Thrombosis and haemostasis · DOI · Europe PMC
• 2026-07
  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
  [Hereditary disorders of hemostasis in obstetrics 1/2-Anesthesiological aspects of primary hemostasis]
  Die Anaesthesiologie · DOI · Europe PMC
• 2026-07综述
  Methodological Considerations in Platelet Flow Cytometric Studies
  International journal of laboratory hematology · DOI · Europe PMC
• 2026-07综述
  Testing for Non-Severe Heritable Platelet Function Disorders
  International journal of laboratory hematology · DOI · Europe PMC
• 2026-06病例报告
  Platelet Function Disorders: Glanzmann Thrombasthenia and Type 2 Von Willebrand Disease
  Cureus · DOI · Europe PMC
• 2026-06
  Peri-operative anaesthetic management of a patient with Glanzmann thrombasthenia undergoing laparoscopic ovarian cystectomy
  Indian journal of anaesthesia · DOI · Europe PMC
• 2026-06
  Genetic characterization of Glanzmann thrombasthenia: insights from novel igta2b mutations in a Tunisian patient cohort
  Blood coagulation & fibrinolysis : an international journal in haemost · DOI · Europe PMC
• 2026-05
  Reduced platelet formation associated with serine metabolic dysregulation in integrin αIIbβ3-deficient megakaryocytes
  Blood · DOI · Europe PMC
• 2026-05综述开放获取
  The Molecular Pathology of Non-Malignant Haematological Disease
  British journal of biomedical science · DOI · Europe PMC
• 2026-05
  Bleeding Phenotypes in Inherited Platelet Function Disorders: Insights From the ATHNdataset
  Journal of pediatric hematology/oncology · DOI · Europe PMC
• 2026-05病例报告开放获取
  Glanzmann Thrombasthenia in a 14-Month-Old Infant: A Rare Platelet Function Disorder Presenting With Persistent Mucocutaneous Bleeding
  Cureus · DOI · Europe PMC
• 2026-05综述开放获取
  Heavy Menstrual Bleeding in the Gynecology Clinic: A Call for Awareness and Standardized Screening for Underlying Bleeding Disorders
  Obstetrical & gynecological survey · DOI · Europe PMC
• 2026-05
  Navigating the Diagnostic and Clinical Spectrum of Thrombocytopenia and Thrombocytopathy: Lessons from a Case Series
  Hamostaseologie · DOI · Europe PMC
• 2026-05
  Efficacy and safety of recombinant activated factor VII for secondary prophylaxis in patients with Glanzmann thrombasthenia
  Research and practice in thrombosis and haemostasis · DOI · Europe PMC
• 2026-05病例报告开放获取
  Identification of an F13A1 frameshift variant associated with factor XIII deficiency in a Coonhound dog with severe coagulopathy
  Journal of veterinary internal medicine · DOI · Europe PMC
• 2026-05开放获取
  A monoclonal antibody to platelet αIIbβ3 that inhibits protein disulfide isomerase binding and platelet aggregation
  Blood advances · DOI · Europe PMC
• 2026-04综述开放获取
  Somatostatin and Its Analogues as Second-Line Treatments in Non-Neoplastic Conditions
  International journal of molecular sciences · DOI · Europe PMC
• 2026-04开放获取
  Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders
  Genome medicine · DOI · Europe PMC
• 2026-04病例报告开放获取
  Case Report: Avermectin poisoning-associated hemolytic uremic syndrome
  Frontiers in immunology · 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。

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