遗传性蛋白C缺陷症合并妊娠1例  

Inherited protein C deficiency in pregnancy:a case report

作　　者：卢秋敏 杨澄宇[2] 贺芳[1] Lu Qiumin;Yang Chengyu;He Fang(Department of Obstetrics(Guangdong Provincial Key Laboratory of Major Obstetric Diseases),the Third Affiliated Hospital of Guangzhou Medical University,Guangzhou 510150,China;Department of Vascular Surgery,the Third Affiliated Hospital of Guangzhou Medical University,Guangzhou 510150,China)

机构地区：[1]广州医科大学附属第三医院产科(广东省产科重大疾病重点实验室),广州510150 [2]广州医科大学附属第三医院血管外科,广州510150

出　　处：《中华围产医学杂志》2023年第6期507-510,共4页Chinese Journal of Perinatal Medicine

基　　金：广州市校联合资助(高水平大学)基础研究项目(202102010131)。

摘　　要：本文报道了1例遗传性蛋白C缺陷症合并妊娠患者。该患者孕前有复发的深静脉血栓病史并经家系全外显子组测序发现PROC基因变异,确诊为遗传性蛋白C缺陷症。孕期给予抗凝治疗及多学科综合管理,产前检查未见明显异常并于孕38周+2阴道助产一男活婴,无产后出血,母儿预后好。此类患者的妊娠期管理以抗凝治疗为主,避免发生严重血栓事件,以保障母婴安全。This paper reported the management of a pregnant women with inherited protein C deficiency.The patient had a history of recurrent deep vein thrombosis before pregnancy and was diagnosed with inherited protein C deficiency by a pedigree-based whole exome sequencing,which revealed PROC gene mutations.She received anticoagulation treatment and was managed by a multidisciplinary team during pregnancy.No significant abnormalities were found during routine prenatal examination and a male infant was delivered vaginally at 38+2 gestational weeks.No postpartum hemorrhage was reported and the maternal and infant outcomes were good.The management of such patients during pregnancy mainly relied on anticoagulation therapy to avoid serious thrombotic events and ensure the safety of the mothers and fetuses.

关 键 词：蛋白质C缺乏 妊娠并发症 蛋白质C 遗传变异 血栓形成倾向 

分 类 号：R714.25[医药卫生—妇产科学]