[一名成年患者的巴特综合征:问题概述和病例报告。综述]。

IF 0.3 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Terapevticheskii Arkhiv 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
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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。
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[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.

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来源期刊
Terapevticheskii Arkhiv
Terapevticheskii Arkhiv 医学-医学:内科
CiteScore
1.40
自引率
33.30%
发文量
171
审稿时长
3-8 weeks
期刊介绍: Терапевтический архив The journal was founded by the prominent Russian therapists M.P. Konchalovsky and G.F. Lang in 1923. Then its editors-in-chief were Professors V.N. Vinogradov and A.G. Gukasyan. Since 1972, E.I. Chazov, Academician of the Russian Academy of Sciences, has been heading the editorial board of the journal. Over 90 years, there have been more than 1000 issues where the authors and editorial staff have done their best for readers to keep abreast of current advances in medical science and practice and for physicians to master the advanced principles of recognition and treatment of a wide spectrum of visceral diseases. The papers published in the journal (editorials, original articles, lectures, reviews, etc.) cover both current scientific achievements and practical experience in diagnosing, treating, and preventing visceral diseases. The authors of publications are not only Russian, but also foreign scientists and physicians. All papers are peer-reviewed by highly qualified Russian specialists. The journal is published monthly. Traditionally, each issue has predominantly certain thematic areas covering individual therapy specializations. Every year, one of the issues is devoted to related problems in practical medicine (allergology and immunology, neurology and psychiatry, obstetrics, oncology, etc.). This all draws the attention of the reading public to the journal. The journal is indexed in RSCI (Russian Science Citation Index), PubMed/Medline, Index Medicus, Scopus/EMBASE, Web of Science Core Collection (Science Citation Index Expanded), Web of Science (Russian Science Citation Index - RSCI, Current Contents Connect, BIOSIS Previews), Google Scholar, Ulrich''s Periodicals Directory. The journal is included in the list of periodicals recommended by the Higher Attestation Committee for publishing the papers containing the basic materials of doctoral and candidate dissertations. By the decision of the Presidium of the Russian Academy of Medical Sciences, the “Therapevticheskiy Arkhiv” was awarded the Botkin medal. It was admitted to the European Association of Sciences Editors (EASE). The journal was honored with the Golden Press Fund decoration at the 13th International Press Professional Exhibition.
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