[一名成年患者的巴特综合征:问题概述和病例报告。综述]。

Pub Date : 2024-09-14 DOI:10.26442/00403660.2024.08.202815
M D Muksinova, Y F Osmolovskaya, I V Leontyeva, M A Galaeva, O V Stukalova, A G Beniashvili, A A Safiullina, I V Zhirov, S N Tereshchenko
{"title":"[一名成年患者的巴特综合征:问题概述和病例报告。综述]。","authors":"M D Muksinova, Y F Osmolovskaya, I V Leontyeva, M A Galaeva, O V Stukalova, A G Beniashvili, A A Safiullina, I V Zhirov, S N Tereshchenko","doi":"10.26442/00403660.2024.08.202815","DOIUrl":null,"url":null,"abstract":"<p><p>Barth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications. This article describes a clinical case of an adult patient with Barth syndrome. The peculiarities of the course of the disease are described, including the transformation of the hypertrophic type of cardiomyopathy into the hypokinetic type as the patient grew older. This article demonstrates the difficulty in selecting the optimal treatment of a patient with Barth syndrome in real clinical practice, in the absence of clearly prescribed recommendations and pathogenetic therapy.</p>","PeriodicalId":0,"journal":{"name":"","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Barth syndrome in an adult patient: an overview of the problem and case report. A review].\",\"authors\":\"M D Muksinova, Y F Osmolovskaya, I V Leontyeva, M A Galaeva, O V Stukalova, A G Beniashvili, A A Safiullina, I V Zhirov, S N Tereshchenko\",\"doi\":\"10.26442/00403660.2024.08.202815\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Barth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications. This article describes a clinical case of an adult patient with Barth syndrome. The peculiarities of the course of the disease are described, including the transformation of the hypertrophic type of cardiomyopathy into the hypokinetic type as the patient grew older. This article demonstrates the difficulty in selecting the optimal treatment of a patient with Barth syndrome in real clinical practice, in the absence of clearly prescribed recommendations and pathogenetic therapy.</p>\",\"PeriodicalId\":0,\"journal\":{\"name\":\"\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0,\"publicationDate\":\"2024-09-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.26442/00403660.2024.08.202815\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.26442/00403660.2024.08.202815","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

巴特综合征是一种由心磷脂代谢异常引起的罕见遗传病,其特点是确诊后 5 年内因心力衰竭和/或感染性并发症导致的高死亡率。本文描述了一名巴特综合征成年患者的临床病例。文中描述了该病的特殊病程,包括随着患者年龄的增长,肥厚型心肌病转变为动力不足型心肌病。这篇文章表明,在实际临床实践中,由于缺乏明确的建议和病理疗法,很难为巴特综合征患者选择最佳治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
分享
查看原文
[Barth syndrome in an adult patient: an overview of the problem and case report. A review].

Barth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications. This article describes a clinical case of an adult patient with Barth syndrome. The peculiarities of the course of the disease are described, including the transformation of the hypertrophic type of cardiomyopathy into the hypokinetic type as the patient grew older. This article demonstrates the difficulty in selecting the optimal treatment of a patient with Barth syndrome in real clinical practice, in the absence of clearly prescribed recommendations and pathogenetic therapy.

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
×
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