Rheumatoid arthritis? Systemic lupus erythematosus? – Fabry disease
- Authors: Grigoryeva E.V.1,2, Stolyarevich E.S.3,4, Starikov D.V.4, Magdeeva N.A.1, Kondrashova I.A.1, Zhokhova T.P.1, Pasechnaya N.V.2
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Affiliations:
- Saratov State Medical University named after V.I. Razumovsky
- Regional Clinical Hospital, Saratov
- A.I. Yevdokimov Moscow State University of Medicine and Dentistry
- City Clinical Hospital No. 52
- Issue: Vol 17, No 2 (2025)
- Pages: 48-51
- Section: Clinical case
- URL: https://journals.eco-vector.com/2075-3594/article/view/692753
- DOI: https://doi.org/10.18565/nephrology.2025.2.48-51
- ID: 692753
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Abstract
Background. Fabry disease (FD) is a hereditary disorder caused by a decrease or complete absence of the α-galactosidase enzyme. It is characterized by a variety of clinical manifestations, which makes its diagnosis difficult.
Objective. Demonstration of clinical «masks» of Fabry disease using the case history of patient M.
Description of the clinical case. Patient M., 32 years old. Since the age of 7, he had noted acroparesthesia, hypohidrosis, periodic subfebrile temperature, lymphadenopathy, and later the appearance of proteinuria. Rheumatoid arthritis and systemic lupus erythematosus were suggested; methotrexate and methylprednisolone were prescribed – without effect. Based on the results of a nephrobiopsy, Fabry disease was suspected. The diagnosis was confirmed by molecular genetic and biochemical studies. Agalsidase α was prescribed, against this background, the severity of symptoms decreased.
Conclusion. Fabry disease is a rare disease that is difficult to diagnose. Renal biopsy is not the primary diagnostic method for Fabry disease, but in this case it was crucial for its verification, which provided adequate therapy and improvement of the patient’s condition.
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About the authors
Elena V. Grigoryeva
Saratov State Medical University named after V.I. Razumovsky; Regional Clinical Hospital, Saratov
Author for correspondence.
Email: lek133@yandex.ru
ORCID iD: 0000-0001-6064-560X
Cand.Sci. (Med.), Associate Professor at the Department of Hospital Therapy, Faculty of General Medicine
Russian Federation, Saratov; SaratovEkaterina S. Stolyarevich
A.I. Yevdokimov Moscow State University of Medicine and Dentistry; City Clinical Hospital No. 52
Email: lek133@yandex.ru
ORCID iD: 0000-0002-0402-8348
Dr.Sci. (Med.), Professor at the Department of Nephrology, Faculty of Postgraduate Education, A.I. Yevdokimov Moscow State University of Medicine and Dentistry, Physician at the Pathological Anatomy Department, City Clinical Hospital No. 52, Moscow Healthcare Department
Russian Federation, Moscow; MoscowDmitry V. Starikov
City Clinical Hospital No. 52
Email: dmitrij.starikov.6991@gmail.com
ORCID iD: 0000-0002-0604-9521
Physician at the Pathological Anatomy Department
Russian Federation, MoscowNadezhda A. Magdeeva
Saratov State Medical University named after V.I. Razumovsky
Email: magnad4@yandex.ru
ORCID iD: 0000-0002-6397-3542
Cand.Sci. (Med.), Associate Professor oatf the Department of Hospital Therapy, Faculty of General Medicine
Russian Federation, SaratovIrina A. Kondrashova
Saratov State Medical University named after V.I. Razumovsky
Email: dolgasheva.irina@mail.ru
ORCID iD: 0009-0009-6267-6886
6th-year student of the Faculty of General Medicine
Russian Federation, SaratovTaisiia P. Zhokhova
Saratov State Medical University named after V.I. Razumovsky
Email: zhokhova2001@mail.ru
ORCID iD: 0009-0004-6048-8092
6th-year student of the Faculty of General Medicine
Russian Federation, SaratovNatalia V. Pasechnaya
Regional Clinical Hospital, Saratov
Email: natusjok@mail.ru
Head of the Rheumatology Department No. 1
Russian Federation, SaratovReferences
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