[体外膜肺氧合联合介入性血栓切除术治疗蛋白 C 缺乏症引起的高危肺栓塞：一例报告】。］

Q4 Medicine

中国医学科学院学报 Pub Date : 2024-04-01 DOI:10.3881/j.issn.1000-503X.15662

Yu-Hua Xie, An Zhang, Han-Qing Zeng, Yun-Xing Cao

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引用次数: 0

摘要

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病，可导致静脉血栓形成，主要与4-9号外显子和8号内含子突变有关。蛋白C基因突变引起的致命性肺栓塞非常罕见，治疗面临巨大挑战。本文报道了一例由蛋白C基因第8外显子框移位突变引起的致命性肺栓塞，并总结了体外膜肺氧合（呼吸和循环支持）与介入性血栓切除术相结合的治疗经验，为该病的诊断和治疗提供了依据。

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

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.

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来源期刊

中国医学科学院学报 Medicine-Medicine (all)

CiteScore

0.60

自引率

0.00%

发文量

6813

期刊介绍： Acta Academiae Medicinae Sinicae was founded in February 1979. It is a comprehensive medical academic journal published in China and abroad, supervised by the Ministry of Health of the People's Republic of China and sponsored by the Chinese Academy of Medical Sciences and Peking Union Medical College. The journal mainly reports the latest research results, work progress and dynamics in the fields of basic medicine, clinical medicine, pharmacy, preventive medicine, biomedicine, medical teaching and research, aiming to promote the exchange of medical information and improve the academic level of medicine. At present, the journal has been included in 10 famous foreign retrieval systems and their databases [Medline (PubMed online version), Elsevier, EMBASE, CA, WPRIM, ExtraMED, IC, JST, UPD and EBSCO-ASP]; and has been included in important domestic retrieval systems and databases [China Science Citation Database (Documentation and Information Center of the Chinese Academy of Sciences), China Core Journals Overview (Peking University Library), China Science and Technology Paper Statistical Source Database (China Science and Technology Core Journals) (China Institute of Scientific and Technological Information), China Science and Technology Journal Paper and Citation Database (China Institute of Scientific and Technological Information)].