Xie Yu-Hua, Zhang An, Zeng Han-Qing, Cao Yun-Xing
1 Department of Critical Care Medicine,The Second Affiliated Hospital of Chongqing Medical University,Chongqing 400010,China.
2 Department of Hematology,The Second Affiliated Hospital of Chongqing Medical University,Chongqing 400010,China.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2024 Apr;46(2):293-296. doi: 10.3881/j.issn.1000-503X.15662.
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.
遗传性蛋白C缺乏症是一种由蛋白C基因突变引起的染色体遗传性疾病，可导致静脉血栓形成，且大多与外显子4 - 9和内含子8的突变有关。由蛋白C基因突变引起的致命性肺栓塞较为罕见，其治疗面临巨大挑战。本文报道了1例由蛋白C基因外显子8移码突变导致的致命性肺栓塞病例，并总结了体外膜肺氧合（用于呼吸和循环支持）联合介入性血栓切除术的治疗经验，为该病的诊治提供依据。
