体外膜氧合联合介入取栓救治蛋白C基因突变所致高危肺栓塞一例  

Extracorporeal Membrane Oxygenation Combined With Interventional Thrombectomy for Treating High-Risk Pulmonary Embolism Caused by Protein C Deficiency:Report of One Case

作　　者：谢玉华 张安[1] 曾瀚庆[2] 曹云星 XIE Yuhua;ZHANG An;ZENG Hanqing;CAO Yunxing(Department of Critical Care Medicine,The Second Affiliated Hospital of Chongqing Medical University,Chongqing 400010,China;Department of Hematology,The Second Affiliated Hospital of Chongqing Medical University,Chongqing 400010,China)

机构地区：[1]重庆医科大学附属第二医院重症医学科,重庆400010 [2]重庆医科大学附属第二医院血液内科,重庆400010

出　　处：《中国医学科学院学报》2024年第2期293-296,共4页Acta Academiae Medicinae Sinicae

基　　金：2021年国家临床重点专科(重症医学科)建设项目(ZDZK2021-005);重庆市卫生健康委员会新冠肺炎防控应急科研专项(2020NCPZX04)。

摘　　要：遗传性蛋白C缺陷症是由蛋白C基因突变引起的一种染色体遗传病,可导致静脉血栓形成,多与外显子4~9和内含子8的突变有关。蛋白C基因突变引起的致死性肺栓塞罕见,治疗面临巨大挑战。本文报道1例由蛋白C基因8号外显子移码突变引起的致死性肺栓塞,采用体外膜氧合进行呼吸、循环支持,并成功实行介入取栓的救治经验,为该疾病的诊断及救治提供参考。Hereditary protein C deficiency is a chromosomal genetic disease caused by mutations in the protein C gene,which can lead to venous thrombosis and is mostly related to mutations in exons 4-9 and intron 8.Fatal pulmonary embolism caused by mutations in the protein C gene is rare,and the treatment faces great challenges.This article reports a case of fatal pulmonary embolism caused by a frameshift mutation in exon 8 of the protein C gene and summarizes the treatment experience of combining extracorporeal membrane oxygenation(for respiratory and circulatory support)with interventional thrombectomy,providing a basis for the diagnosis and treatment of this disease.

关 键 词：蛋白C缺陷症 蛋白C基因 基因检测 肺栓塞 体外膜氧合 介入取栓 

分 类 号：R459.7[医药卫生—急诊医学] R543.2[医药卫生—治疗学]