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遗传性易栓症的研究现状(PDF)

《中国普外基础与临床杂志》[ISSN:1007-9424/CN:51-1505/R]

期数:
2010年07期
页码:
686-689
栏目:
专题
出版日期:
2010-07-22

文章信息/Info

Title:
Present Status of Hereditary ThrombophiliaJIANG
稿件编号:
201007013
作者:
姜孝奎; 戈小虎
新疆维吾尔自治区人民医院血管外科 (乌鲁木齐 830001)
Author(s):
Xiao-kui;  GE Xiao-hu
 Department of Vascular Surgery, People’s Hospital of Xinjiang Urgur Autonomous Region, Urumqi 830000, China
关键词:
 ; 易栓症;  遗传易感性;  凝血因子;  基因筛查
Keywords:
 ; Thrombophilia;  Genetic susceptibility;  Blood coagulation factor;  Genetic screening
分类号:
R543; R364.15
DOI:
-
文献标识码:
A
摘要:
目的  总结遗传性易栓症的研究进展。
方法 复习近年来有关遗传性易栓症的文献报道并进行分析。
结果 易栓症的遗传性危险因素存在着种族差异。白种人以活化蛋白C抵抗、凝血因子V Leiden突变、亚甲基四氢叶酸还原酶C677T突变及凝血酶原G20120A突变为主要遗传易感因素; 中国人群则以蛋白C系统异常及高同型半胱氨酸血症为主。多个遗传性危险因素的联合存在增加了首发和复发静脉血栓的风险。
结论 进一步探索遗传性危险因素与易栓症的关系, 对于预测及预防静脉血栓栓塞症的发生，降低其发病率有着十分重要的意义。
Abstract:
Objective   To summarize the advancement of hereditary thrombophilia.
Methods    Relevant literatures about hereditary thrombophilia published recently domestic and abroad were reviewed and analyzed.
Results    The hereditary risk factors of venous thromboembolism were different among different races. In western population, the main risk factors were activated protein C resistance (APC-R) and mutation of factor V Leiden, methylene tetrahydrofolate reductase polymorphism (C677T) and prothrombin G20210A. While in Chinese population, the disorder of protein C system and hyperhomocysteinemia were the major genetic risk factor. The existence of multiple genetic risk factors increased the incidence of primary and recurrent venous thromboembolism.
Conclusion    Further study on the relations between the hereditary risk factors and thrombophilia will be very important for prediction and prevention of the venous thromboembolism.

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备注/Memo

备注/Memo:
 【通讯作者】戈小虎，E-mail: gexiaohuxj@sohu.com
【作者简介】姜孝奎(1981年-)，男，河南省平顶山市人，在读硕士研究生，住院医师，主要从事动、静脉血栓疾病方面的研究，Email: jiangxiaokui2008@163.com。
更新日期/Last Update: 2010-07-27