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基因缺陷：一例年轻的肺血栓栓塞症。

Fault in Our Genes: A Case of Pulmonary Thromboembolism in Young.

机构信息

Department of Internal Medicine, Sir Ganga Ram Hospital, New Delhi, India.

出版信息

Ann Afr Med. 2024 Apr 1;23(2):234-236. doi: 10.4103/aam.aam_68_23. Epub 2023 Oct 24.

DOI:10.4103/aam.aam_68_23
PMID:39028172
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11210736/
Abstract

Methylenetetrahydrofolate reductase (MTHFR) enzyme is one of the key enzymes involved in the metabolism of folate. Mutations in this enzyme can lead to a procoagulant state. We present a case of a 20-year-old male with no known comorbidities, who presented with fever and hemoptysis and was diagnosed as a case of pulmonary embolism. He was found to have a homozygous mutation in the MTHFR gene that was responsible for his disease state. He was started on unfractionated heparin infusion and underwent catheter-directed thrombolysis. He showed marked improvement in his condition and was discharged on oral anticoagulants with an advice to follow-up.

摘要

亚甲基四氢叶酸还原酶（MTHFR）酶是参与叶酸代谢的关键酶之一。该酶的突变可导致促凝状态。我们报告了一例 20 岁男性，无已知合并症，发热伴咯血，诊断为肺栓塞。他被发现 MTHFR 基因存在纯合突变，导致他的疾病状态。他开始接受未分级肝素输注，并接受导管定向溶栓治疗。他的病情明显改善，并出院口服抗凝剂，建议随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb77/11210736/4a99ad19629d/AAM-23-234-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb77/11210736/4f0e7a5ce56c/AAM-23-234-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb77/11210736/78b134338acd/AAM-23-234-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb77/11210736/4a99ad19629d/AAM-23-234-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb77/11210736/4f0e7a5ce56c/AAM-23-234-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb77/11210736/78b134338acd/AAM-23-234-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb77/11210736/4a99ad19629d/AAM-23-234-g003.jpg

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本文引用的文献

1
Homocysteine and MTHFR Mutations.同型半胱氨酸与亚甲基四氢叶酸还原酶突变
Circulation. 2015 Jul 7;132(1):e6-9. doi: 10.1161/CIRCULATIONAHA.114.013311.
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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.一种血管疾病的潜在遗传风险因素：亚甲基四氢叶酸还原酶的常见突变
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Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase.中度高同型半胱氨酸血症：亚甲基四氢叶酸还原酶的一种热不稳定变体。
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