法布里病临床病例:心脏外科病人的一个有趣发现

O. Yepanchintseva, А.S. Solonovych, А.V. Besaga, O. Zharinov
{"title":"法布里病临床病例:心脏外科病人的一个有趣发现","authors":"O. Yepanchintseva, А.S. Solonovych, А.V. Besaga, O. Zharinov","doi":"10.31928/2305-3127-2022.1-2.5868","DOIUrl":null,"url":null,"abstract":"Fabry disease is a lysosomal storage disorder, linked to X chromosome, leading to disruption of glycosphingolipid metabolism due to deficiency of lysosomal α-galactosidase A. The cascade of pathological processes can eventually lead to damage of different organs and systems including cardiovascular system. However, due to polymorphism of clinical manifestations, this disease often remains undiagnosed or diagnosed at terminal multiorgan failure stage. Existing clinical guidelines for management of patients with Fabry disease emphasize the importance of early diagnosis for initiation of specific therapy, as well as need for multidisciplinary approach in treatment of such patients.","PeriodicalId":9540,"journal":{"name":"Cardiac Surgery and Interventional Cardiology","volume":"54 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical case of Fabry disease: an interesting finding in cardiac surgery patient\",\"authors\":\"O. Yepanchintseva, А.S. Solonovych, А.V. Besaga, O. Zharinov\",\"doi\":\"10.31928/2305-3127-2022.1-2.5868\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Fabry disease is a lysosomal storage disorder, linked to X chromosome, leading to disruption of glycosphingolipid metabolism due to deficiency of lysosomal α-galactosidase A. The cascade of pathological processes can eventually lead to damage of different organs and systems including cardiovascular system. However, due to polymorphism of clinical manifestations, this disease often remains undiagnosed or diagnosed at terminal multiorgan failure stage. Existing clinical guidelines for management of patients with Fabry disease emphasize the importance of early diagnosis for initiation of specific therapy, as well as need for multidisciplinary approach in treatment of such patients.\",\"PeriodicalId\":9540,\"journal\":{\"name\":\"Cardiac Surgery and Interventional Cardiology\",\"volume\":\"54 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-11-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cardiac Surgery and Interventional Cardiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31928/2305-3127-2022.1-2.5868\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cardiac Surgery and Interventional Cardiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31928/2305-3127-2022.1-2.5868","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

法布里病是一种溶酶体贮积性疾病,与X染色体有关,由于溶酶体α-半乳糖苷酶a缺乏,导致鞘糖脂代谢紊乱,病理过程的级联最终可导致包括心血管系统在内的不同器官和系统的损伤。然而,由于临床表现的多态性,本病往往未被诊断或诊断到终末期多器官衰竭阶段。现有的Fabry病临床指南强调早期诊断对启动特异性治疗的重要性,以及在治疗此类患者时需要多学科方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical case of Fabry disease: an interesting finding in cardiac surgery patient
Fabry disease is a lysosomal storage disorder, linked to X chromosome, leading to disruption of glycosphingolipid metabolism due to deficiency of lysosomal α-galactosidase A. The cascade of pathological processes can eventually lead to damage of different organs and systems including cardiovascular system. However, due to polymorphism of clinical manifestations, this disease often remains undiagnosed or diagnosed at terminal multiorgan failure stage. Existing clinical guidelines for management of patients with Fabry disease emphasize the importance of early diagnosis for initiation of specific therapy, as well as need for multidisciplinary approach in treatment of such patients.
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:604180095
Book学术官方微信