AI Article Synopsis
- - Hereditary protein C deficiency is a genetic disorder linked to mutations in the protein C gene, primarily in exons 4-9 and intron 8, and can lead to serious conditions like venous thrombosis.
- - Fatal pulmonary embolism resulting from protein C gene mutations is uncommon, and treating it presents significant challenges.
- - The article highlights a case where a frameshift mutation in exon 8 led to fatal pulmonary embolism, and it discusses a successful treatment approach using extracorporeal membrane oxygenation with interventional thrombectomy, offering insights for future diagnoses and treatments.
Article 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.
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| http://dx.doi.org/10.3881/j.issn.1000-503X.15662 | DOI Listing |
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