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Fabry's disease (description of a clinical case)

https://doi.org/10.24884/1609-2201-2026-105-2-38-47

Abstract

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.

About the Authors

M. V. Pashkov
Pavlov University
Russian Federation

Maxim V. Pashkov, 5th–year student

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



E. I. Baranova
Pavlov University
Russian Federation

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



I. S. Trusov
Pavlov University
Russian Federation

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



A. I. Metlinskaya
Pavlov University
Russian Federation

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

Saint Petersburg



A. A. Katsap
Pavlov University
Russian Federation

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



Е. А. Marshalkovskaya
Pavlov University
Russian Federation

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



S. E. Nifontov
Pavlov University
Russian Federation

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

Saint Petersburg



References

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Review

For citations:


Pashkov M.V., Baranova E.I., Trusov I.S., Metlinskaya A.I., Katsap A.A., Marshalkovskaya Е.А., Nifontov S.E. Fabry's disease (description of a clinical case). New St. Petersburg Medical Records. 2026;(2):38-47. (In Russ.) https://doi.org/10.24884/1609-2201-2026-105-2-38-47

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ISSN 1609-2201 (Print)