Extracorporeal Membrane Oxygenation Combined With Interventional Thrombectomy for Treating High-Risk Pulmonary Embolism Caused by Protein C Deficiency:Report of One Case
10.3881/j.issn.1000-503X.15662
- VernacularTitle: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
- Author:
Yuhua XIE
1
;
An ZHANG
;
Hanqing ZENG
;
Yunxing CAO
Author Information
1. 重庆医科大学附属第二医院 重症医学科, 重庆 400010
- Keywords:
protein C deficiency;
protein C gene;
genetic testing;
pulmonary embolism;
extracorporeal membrane oxygena-tion;
interventional thrombectomy
- From:
Acta Academiae Medicinae Sinicae
2024;46(2):293-296
- CountryChina
- Language:Chinese
-
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.
