spbmedicalrecordsНовые Санкт-Петербургские врачебные ведомостиNew St. Petersburg Medical Records1609-2201Первый Санкт-Петербургский государственный медицинский университет имени академика И.П. Павлова10.24884/1609-2201-2026-105-2-38-47spbmedicalrecords-154Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESБолезнь Фабри (описание клинического случая)Fabry's disease (description of a clinical case)https://orcid.org/0009-0008-1286-1488ПашковМ. В.PashkovM. V.

Пашков Максим Вадимович, студент 5 курса

197022, Санкт-Петербург, ул. Льва Толстого, д. 6–8

Maxim V. Pashkov, 5th–year student

6–8 L'va Tolstogo St., Saint Petersburg, 197022

pashkov-31.04@yandex.ruhttps://orcid.org/0000-0002-8788-0076БарановаЕ. И.BaranovaE. I.

Баранова Елена Ивановна, доктор медицинских наук, профессор, профессор кафедры терапии факультетской с курсом эндокринологии, кардиологии с клиникой имени акад. Г.Ф. Ланга

Санкт-Петербург

Elena I. Baranova, Dr. of Sci. (med.), Professor, Department of Faculty Therapy with a course in Endocrinology, Cardiology with the Clinic named after Academician G. F. Lang

Saint Petersburg

baranova.grant2015@yandex.ruhttps://orcid.org/0000-0002-4869-2195ТрусовИ. С.TrusovI. S.

Трусов Иван Сергеевич, кандидат медицинских наук, доцент кафедры факультетской терапии с курсом эндокринологии, кардиологии с клиникой им. акад. Г. Ф. Ланга

Санкт-Петербург

Ivan S. Trusov, Cand. of Sci. (Med.), Associate professor of the Department of Faculty Therapy with a course in endocrinology and Cardiology at the clinic named after Academician G. F. Lang, Head of the Cardiology Department No. 1 of the Clinic of the Research Institute of Cardiovascular Diseases

Saint Petersburg

dr.getsuga@gmail.comhttps://orcid.org/0000-0002-1264-1425МетлинскаяА. И.MetlinskayaA. I.

Метлинская Анна Ивановна, врач-кардиолог кардиологического отделения №1 НИИ сердечно-сосудистых заболеваний НКИЦ

Санкт-Петербург

Anna I. Metlinskaya, Cardiologist at the Cardiology Department No. 1 of the Research Institute of Cardiovascular Diseases

Saint Petersburg

shaban_anea@mail.ruhttps://orcid.org/0000-0003-2698-7977КацапА. А.KatsapA. A.

Кацап Анна Александровна, кандидат медицинских наук, доцент кафедры факультетской терапии с курсом эндокринологии, кардиологии с клиникой им. акад. Г. Ф. Ланга

Санкт-Петербург

Anna A. Katsap, Cand. of Sci. (Med.), Associate Professor of the Faculty's Department of Therapy with a course in Endocrinology and Cardiology at the clinic named after Academician G. F. Lang

Saint Petersburg

annakatsap@inbox.ruhttps://orcid.org/0009-0001-3527-8884МаршалковскаяЕ. А.MarshalkovskayaЕ. А.

Маршалковская Екатерина Александровна, клинический ординатор 2 года обучения, кафедра терапии факультетской с курсом эндокринологии, кардиологии с клиникой им. акад. Г. Ф. Ланга

Санкт-Петербург

Ekaterina A. Marshalkovskaya, clinical resident for 2 years of study, Faculty Department of Therapy with a course in endocrinology, cardiology with a clinic named after Academician G. F. Lang

Saint Petersburg

marshalkovskaya00@mail.ruhttps://orcid.org/0000-0002-8857-7992НифонтовС. Е.NifontovS. E.

Нифонтов Сергей Евгеньевич, врач ультразвуковой диагностики отделения функциональной диагностики №1

Санкт-Петербург

Sergey E. Nifontov, doctor of ultrasound diagnostics at the Department of Functional Diagnostics No. 1

Saint Petersburg

Sergioni@yandex.ruПервый Санкт-Петербургский государственный медицинский университет имени академика И. П. ПавловаРоссияPavlov UniversityRussian Federation202611102026023847Copyright © Пашков М.В., Баранова Е.И., Трусов И.С., Метлинская А.И., Кацап А.А., Маршалковская Е.А., Нифонтов С.Е., 20262026Пашков М.В., Баранова Е.И., Трусов И.С., Метлинская А.И., Кацап А.А., Маршалковская Е.А., Нифонтов С.Е.Pashkov M.V., Baranova E.I., Trusov I.S., Metlinskaya A.I., Katsap A.A., Marshalkovskaya Е.А., Nifontov S.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.docved.ru/jour/article/view/154

В статье приводится описание клинического случая орфанного наследственного Х-сцепленного заболевания – болезни Фабри, характеризующегося накоплением сфинголипидов в различных органах и развитием их дисфункции. Данное заболевание может встретиться в практике врачей различных специальностей и от ранней диагностики зависит своевременная ферментозаместительная терапия и прогноз пациента. Цель статьи – описать клинический случай кардиологической манифестации болезни Фабри у женщины. В статье рассмотрен патогенез болезни Фабри, симптомы заболевания, особенности терапии и критерии ее эффективности.

The article describes a clinical case of Fabry’s disease – orphan hereditary X-linked disease, characterized by the accumulation of sphingolipids in various organs and the development of their dysfunction. This disease can occur in the practice of doctors of various specialties, and the patient's prognosis depends on early diagnosis and enzyme replacement therapy. The purpose of the article is to describe a clinical case of cardiological manifestation of Fabry's disease in a woman. The article discusses the pathogenesis of Fabry's disease, the symptoms of the disease, the management and criteria for treatment effectiveness.

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The authors declare that there are no conflicts of interest present.