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When Glanzmann thrombasthenia encounters antithrombin deficiency: how do we balance the risk and benefit of antithrombotic therapy?

作者信息

Wang Yu, Liu Zhihao, Weng Haoyu, Li Jianping

机构信息

Department of Endocrinology, Peking University First Hospital, Beijing 100034, China.

Department of Cardiology, Peking University First Hospital, Beijing 100034, China.

出版信息

World J Emerg Med. 2024;15(1):67-69. doi: 10.5847/wjem.j.1920-8642.2024.012.

DOI:10.5847/wjem.j.1920-8642.2024.012
PMID:38188552
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10765076/
Abstract
摘要

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2
Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population.突尼斯Glanzmann血小板无力症患者的分子遗传学诊断显示,ITGA2B基因中存在一种常见的无义突变,该突变似乎是所研究人群特有的。
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本文引用的文献

1
Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families.抗凝血酶缺陷:血栓形成和血栓形成倾向家族患者的频率。
Acta Medica (Hradec Kralove). 2023;66(1):19-23. doi: 10.14712/18059694.2023.10.
2
Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3.巴基斯坦患者的 Glanzmann 血小板无力症:纤维蛋白原受体 αIIbβ3 中的 7 种新型致病性变异的鉴定。
Cells. 2023 Jan 4;12(2):213. doi: 10.3390/cells12020213.
3
Glanzmann thrombasthenia complicated by frequent myeloproliferative neoplasm-related thromboembolism: thrombosis occurring regardless of αIIbβIII integrin deficiency.血小板无力症合并频繁的骨髓增殖性肿瘤相关血栓栓塞:无论αIIbβIII整合素缺乏与否均会发生血栓形成。
Clin Case Rep. 2021 Sep 15;9(9):e04757. doi: 10.1002/ccr3.4757. eCollection 2021 Sep.
4
Anticoagulant and signaling functions of antithrombin.抗凝血酶的抗凝及信号传导功能
J Thromb Haemost. 2020 Dec;18(12):3142-3153. doi: 10.1111/jth.15052. Epub 2020 Sep 9.
5
Interrelationship between venous and arterial thrombosis.静脉血栓与动脉血栓之间的相互关系。
Int Angiol. 2017 Aug;36(4):295-298. doi: 10.23736/S0392-9590.17.03820-2. Epub 2017 Mar 6.
6
Natural anticoagulants deficiency and the risk of venous thromboembolism: a meta-analysis of observational studies.天然抗凝剂缺乏与静脉血栓栓塞风险:观察性研究的荟萃分析
Thromb Res. 2015 May;135(5):923-32. doi: 10.1016/j.thromres.2015.03.010. Epub 2015 Mar 13.
7
Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia.一名患有Glanzmann血小板无力症的患者出现深静脉血栓形成、雷诺现象和变异型心绞痛。
Case Rep Hematol. 2012;2012:156290. doi: 10.1155/2012/156290. Epub 2012 Dec 31.
8
Secondary prophylaxis with warfarin for recurrent thrombosis in a patient with Glanzmann thrombasthenia and F5 G1691A.
Br J Haematol. 2012 Jan;156(1):144. doi: 10.1111/j.1365-2141.2011.08821.x. Epub 2011 Aug 16.
9
Venous thrombosis in Glanzmann's thrombasthenia.
Haemophilia. 2007 Nov;13(6):758-9. doi: 10.1111/j.1365-2516.2007.01555.x. Epub 2007 Sep 19.
10
The role of platelets in venous thrombosis: a patient with Glanzmann's thrombasthenia and a factor V Leiden mutation suffering from deep venous thrombosis.血小板在静脉血栓形成中的作用:一名患有Glanzmann血小板无力症和因子V莱顿突变的深静脉血栓形成患者。
J Thromb Haemost. 2003 Feb;1(2):394-5. doi: 10.1046/j.1538-7836.2003.00041.x.