[一点关于神经脂质中毒在心脏病学：一个法布里病的临床病例]。

IF 0.3 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Terapevticheskii Arkhiv Pub Date : 2025-07-31 DOI:10.26442/00403660.2025.07.203352

A A Vedernikov, E M Mezhonov, N E Shirokov, A M Adamchuk, V A Balina, O M Reitblat, V I Larionova, S V Shalaev

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引用次数: 0

摘要

本文提出了一个临床病例法布里病在一个女人，特点是多系统病变，晚发和主要的临床表现为心衰。详细描述了这种病理的特点，重点是心血管系统的仪器研究，并分析了法布里病的进展过程。这一临床观察说明了家庭筛查和详细记忆的重要性，展示了地区医院心脏病专家在实际临床实践中对患有孤儿病的患者的监督过程，从而提高了俄罗斯医学界对这种病理的认识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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[A little bit about sphingolipidoses in cardiology: a clinical case of Fabry disease].

The article presents a clinical case of Fabry disease in a woman, characterized by multisystemic lesions, late onset and predominant clinical picture of heart failure. The features of this pathology are described in detail with an emphasis on instrumental studies of the cardiovascular system, and the progressive course of Fabry disease is analyzed. This clinical observation illustrates the importance of family screening and detailed anamnesis, shows the process of supervision of a patient with an orphan disease by a cardiologist of a regional hospital in real clinical practice, thereby increasing awareness of the Russian medical community about this pathology.

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来源期刊

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.