成人型亚甲基四氢叶酸还原酶 C677T 突变及其反响:病例报告

Jyoti Chauhan, Kunal Chawla, Rishikesh Dessai, Shipra Gulati
{"title":"成人型亚甲基四氢叶酸还原酶 C677T 突变及其反响:病例报告","authors":"Jyoti Chauhan, Kunal Chawla, Rishikesh Dessai, Shipra Gulati","doi":"10.32677/ijcr.v10i8.4584","DOIUrl":null,"url":null,"abstract":"Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that converts homocysteine into methionine by catalyzing the conversion of 5,10-methyltetrahydrofolate into 5methyltetrahydrofolate. Deep vein thrombosis, coronary artery disease, peripheral vascular thrombosis, and cerebrovascular thrombosis are attributed to homozygous MTHFR mutations. We describe here a case of a 42-year-old male, who presented to us with subdural hemorrhage following systemic thrombolysis for pulmonary embolism. He was found to have hyperhomocysteinemia as a result of homozygous MTHFR C677T mutation. He underwent left fronto-temporo-parietal decompressive craniectomy and hematoma evacuation with the placement of a free bone flap in the right anterior abdominal wall and placement of an IVC filter to prevent recurrent venous thromboembolism. He was started on Vitamin B12, pyridoxine, and folic acid supplementation and was discharged in a stable condition with a plan for cranioplasty at a later date.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Adult-onset methylenetetrahydrofolate reductase C677T mutation and its repercussion: A case report\",\"authors\":\"Jyoti Chauhan, Kunal Chawla, Rishikesh Dessai, Shipra Gulati\",\"doi\":\"10.32677/ijcr.v10i8.4584\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that converts homocysteine into methionine by catalyzing the conversion of 5,10-methyltetrahydrofolate into 5methyltetrahydrofolate. Deep vein thrombosis, coronary artery disease, peripheral vascular thrombosis, and cerebrovascular thrombosis are attributed to homozygous MTHFR mutations. We describe here a case of a 42-year-old male, who presented to us with subdural hemorrhage following systemic thrombolysis for pulmonary embolism. He was found to have hyperhomocysteinemia as a result of homozygous MTHFR C677T mutation. He underwent left fronto-temporo-parietal decompressive craniectomy and hematoma evacuation with the placement of a free bone flap in the right anterior abdominal wall and placement of an IVC filter to prevent recurrent venous thromboembolism. He was started on Vitamin B12, pyridoxine, and folic acid supplementation and was discharged in a stable condition with a plan for cranioplasty at a later date.\",\"PeriodicalId\":13365,\"journal\":{\"name\":\"Indian Journal of Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-07-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32677/ijcr.v10i8.4584\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32677/ijcr.v10i8.4584","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

亚甲基四氢叶酸还原酶(MTHFR)是一种通过催化 5,10-甲基四氢叶酸转化为 5-甲基四氢叶酸,从而将同型半胱氨酸转化为蛋氨酸的酶。深静脉血栓形成、冠状动脉疾病、外周血管血栓形成和脑血管血栓形成均可归因于同型 MTHFR 突变。我们在此描述一例 42 岁男性病例,他因肺栓塞全身溶栓后硬膜下出血而就诊。他被发现患有高同型半胱氨酸血症,这是同型 MTHFR C677T 突变的结果。他接受了左前颞顶叶减压颅骨切除术和血肿清除术,在右前腹壁放置了游离骨瓣,并放置了 IVC 过滤器以预防复发性静脉血栓栓塞。他开始补充维生素 B12、吡哆醇和叶酸,病情稳定后出院,并计划日后进行颅骨成形术。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Adult-onset methylenetetrahydrofolate reductase C677T mutation and its repercussion: A case report
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that converts homocysteine into methionine by catalyzing the conversion of 5,10-methyltetrahydrofolate into 5methyltetrahydrofolate. Deep vein thrombosis, coronary artery disease, peripheral vascular thrombosis, and cerebrovascular thrombosis are attributed to homozygous MTHFR mutations. We describe here a case of a 42-year-old male, who presented to us with subdural hemorrhage following systemic thrombolysis for pulmonary embolism. He was found to have hyperhomocysteinemia as a result of homozygous MTHFR C677T mutation. He underwent left fronto-temporo-parietal decompressive craniectomy and hematoma evacuation with the placement of a free bone flap in the right anterior abdominal wall and placement of an IVC filter to prevent recurrent venous thromboembolism. He was started on Vitamin B12, pyridoxine, and folic acid supplementation and was discharged in a stable condition with a plan for cranioplasty at a later date.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信