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家系中抗凝血酶Ⅲ缺乏症致反复妊娠丢失二例分析

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Author:: No author available

Journal Title:: Chinese Journal of Obstetrics and Gynecology

Issue:: 2

DOI:: 10.3760/cma.j.issn.0529-567x.2018.02.010

Key Word:: No keyword available

Abstract：遗传性易栓症是指由于遗传因素所致的易发生血栓的静脉血栓栓塞症(venous thromboembolism,VTE),病因包括凝血因子Ⅴ基因突变、凝血酶原基因突变、蛋白S缺乏、蛋白C缺乏、抗凝血酶(antithrombin,AT)Ⅲ缺乏症、异常纤维蛋白原血症等.ATⅢ缺乏症是常染色体显性遗传,ATⅢ基因位于1号染色体长臂,包含7个外显子和6个内含子,呈现家系遗传.本研究就北京协和医院收治的1个ATⅢ缺乏症家系,其中3例女性患者共有7次妊娠史(包含2次血栓导致的妊娠丢失史),对该家系ATⅢ缺乏症合并妊娠的病例进行临床分析,以探讨此类患者妊娠的临床表现和管理方法.

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