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本文引用的文献

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Homocysteine trials--clear outcomes for complex reasons.同型半胱氨酸试验——结果复杂,尚无明确结论。
N Engl J Med. 2006 Apr 13;354(15):1629-32. doi: 10.1056/NEJMe068060. Epub 2006 Mar 12.
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Homocysteine lowering and cardiovascular events after acute myocardial infarction.急性心肌梗死后降低同型半胱氨酸水平与心血管事件
N Engl J Med. 2006 Apr 13;354(15):1578-88. doi: 10.1056/NEJMoa055227. Epub 2006 Mar 12.
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Management options for thrombophilias.血栓形成倾向的管理方案。
Semin Thromb Hemost. 2005 Feb;31(1):118-26. doi: 10.1055/s-2005-863814.
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Genetic thrombophilia.遗传性血栓形成倾向
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The occasional venous thromboses seen in patients with severe (homozygous) FXII deficiency are probably due to associated risk factors: a study of prevalence in 21 patients and review of the literature.对21例严重(纯合子)FXII缺乏症患者中偶尔出现的静脉血栓形成的研究及文献回顾表明,这些血栓形成可能归因于相关危险因素。
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High plasma levels of factor VIII and risk of recurrence of venous thromboembolism.血浆中高浓度的凝血因子VIII与静脉血栓栓塞复发风险
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7
Increased plasma levels of lipoprotein(a) and the risk of idiopathic and recurrent venous thromboembolism.脂蛋白(a)血浆水平升高与特发性及复发性静脉血栓栓塞风险
Am J Med. 2003 Dec 1;115(8):601-5. doi: 10.1016/j.amjmed.2003.06.005.
8
INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA.遗传性抗凝血酶缺乏导致血栓形成倾向。
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Inherited thrombophilia and venous thromboembolism.遗传性血栓形成倾向与静脉血栓栓塞症
Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):413-25. doi: 10.1016/s1521-6934(03)00007-5.
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Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.抗凝血酶Phe229Leu:一种导致体内抗凝血酶自发聚合的新纯合变异体,与儿童严重血栓形成相关。
Blood. 2003 Aug 1;102(3):919-25. doi: 10.1182/blood-2002-11-3391. Epub 2003 Feb 20.

遗传性血栓形成倾向

Hereditary thrombophilia.

作者信息

Khan Salwa, Dickerman Joseph D

机构信息

Department of Pediatrics, University of Maryland, Suite N5W56 22 S, Greene St, Baltimore, MD 21201, USA.

出版信息

Thromb J. 2006 Sep 12;4:15. doi: 10.1186/1477-9560-4-15.

DOI:10.1186/1477-9560-4-15
PMID:16968541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1592479/
Abstract

Thrombophilia can be defined as a predisposition to form clots inappropriately. Thrombotic events during infancy and childhood are increasingly recognized as a significant source of mortality and morbidity. The predisposition to form clots can arise from genetic factors, acquired changes in the clotting mechanism, or, more commonly, an interaction between genetic and acquired factors. Since the turn of the last century, there has been extensive research focusing on both the genetic and acquired causes of thrombophilia, with particular focus on clotting events in the venous circulation. This review describes clinically relevant aspects of genetic venous thrombophilia, which include well-established, lesser known, and suggested causes of inherited thrombophilias.

摘要

易栓症可定义为易于不适当形成血栓的一种倾向。婴儿期和儿童期的血栓形成事件日益被视为死亡和发病的一个重要来源。形成血栓的倾向可能源于遗传因素、凝血机制的后天改变,或者更常见的是遗传因素与后天因素之间的相互作用。自上世纪之交以来,人们对易栓症的遗传和后天病因进行了广泛研究,尤其关注静脉循环中的凝血事件。本综述描述了遗传性静脉易栓症的临床相关方面,其中包括已明确的、鲜为人知的以及推测的遗传性易栓症病因。