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}
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.