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
谢玉华 1张安 1曾瀚庆 2曹云星1
作者信息
- 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
- 折叠
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.
Abstract
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Key words
protein C deficiency/protein C gene/genetic testing/pulmonary embolism/extracorporeal membrane oxygena-tion/interventional thrombectomy引用本文复制引用
基金项目
国家临床重点专科(重症医学科)建设项目(2021)(ZDZK2021-005)
重庆市卫生健康委新冠肺炎防控应急科研专项(2020NCPZX04)
出版年
2024
国家科技期刊平台
NSTL
万方数据