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Screening diagnostics of the Fabry disease on the basis of the "V.A. Baranov Republican Hospital" in Karelia Republic

https://doi.org/10.36485/1561-6274-2025-29-1-102-106

EDN: BATVYX

Abstract

BACKGROUND: Fabry disease is a rare hereditary X-linked lysosomal accumulation disease, caused by a decrease in the activity of alpha-galactosidase A. This leads to the accumulation of glycosfingolipids in different tissues of the body. Due to its rarity and variety of symptoms, it is difficult to diagnose Fabry disease correctly. Early diagnosis is crucial for timely therapeutic intervention and slowing down the development of organ damage. The aim of this study was to screen patients with Fabry's disease in the V.A Baranov Republican Hospital. 27 patients (16 women and 11 men), who were undergoing hemodialysis treatment for terminal renal failure in the hemodialysis department at the Karelia Republican Hospital named after V.A.Baranov, participated in the screening. Also, one patient (a man) from the cardiology department of V.A's Republican Hospital was included in the study. Baranov, observed for hypertrophic cardiomyopathy. Screening was carried out by determining the concentration of globotrialsingosine (LySo-GB3) in dry blood stains by tandem mass spectrometry (TMS) at the National Medical Research Center for Children's Health in Moscow. RESULTS: At the time of publication, among 27 hemodialysis patients, no decrease in α-galactosidase-A activity was revealed. The screening is still ongoing. Also, during the study, the first Fabry disease patient who began enzyme replacement therapy was discovered in the cardiology department. CONCLUSION: The study results confirm the rarity of the disease and the wide range of its manifestations. A clinical case illustrates the development of cardiovascular and cerebrovascular complications and renal failure progression in Fabry disease.

About the Authors

Olga Iu. Barysheva
Nephrology Unit, V.A. Baranov Republican Hospital; Department of Hospital Therapy, Petrozavodsk State University
Russian Federation

Olga Iu. Barysheva, MD, PhD, DMedSci, Prof.,

33, Lenin ave., Petrozavodsk, 185910.

Phone: (8142) 761622.



Maria V. Vybach
Cardiology Unit , V.A. Baranov Republican Hospital
Russian Federation

Maria V. Vybach, MD,

3, Perogova str., Petrozavodsk 185019 

Phone: (911) 4351596.



Daria V. Smirnova
Department of Hospital Therapy, Petrozavodsk State University
Russian Federation

Daria V. Smirnova, Student,

33, Lenin ave., Petrozavodsk, 185910.

Phone: (981) 4011316.



References

1. Mukhin NA, Moiseev VS, Moiseev SV et al. Diagnostics and treatment of Fabry disease. Clinical pharmacology and therapy 2013;22(2):11–20. (In Russ.)

2. Nasonova NR. The importance of clinical, modern biochemical methods and family screening in the diagnosis of Fabry disease. Sechenov University, Moscow, 2021; 107 p. (In Russ.)

3. Pieroni M. Defeat of the heart in Fabry disease: new mechanisms of development and approaches to treatment. Clinical pharmacology and therapy 2021;30(2):6–16. (In Russ.)

4. Rudenskaya GE, Zakharova EY. Hereditary neurometabolic diseases of adolescence and adulthood. GEOTAR-Media, M, 2018; 392 p. (In Russ.)

5. Vishnevskii KA, Frolova EV, Domashenko OM et al. Screening diagnostics of fabric disease among patients with chronic kidney disease in the north-western region of Russia. Nephrology (Saint-Petersburg) 2019;23(1):51–59.(In Russ.) https://doi.org/10.24884/1561-6274-2019-23-1-51-59. (In Russ.)

6. Tao EA. Features of the clinical course and prognostic factors of kidney damage in Fabry's disease. Sechenov University. M., 2020; 129 p. (In Russ.)

7. Federal clinical guidelines for the diagnosis and treatment of Fabry's disease. Text: electronic;2019. ID:318. URL: http://cr.rosminzdrav.ru/#!/recomend/976 (дата обращения: 15.05.2022)

8. Linhart A, Germain DP, Olivotto I et al. An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail 2020;22:76–96

9. Aronson JK. Rare diseases and orphan drugs. 2006, 243–245

10. Ortiz A, Germain DP, Desnick RJ et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab 2018;123: 41627

11. Fuller M, Meikle PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. Fabry Disease: Perspectives from 5 Years of FOS. Oxford, UK. 2006

12. Spada M, Pagliardini S, Yasuda M et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31–40

13. Ortiz A, Abiose А, Bichet DG et al. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry. J Med Genet 2016;53:495–502

14. Zakharova EY, Baydakova GV. Laboratory tests for lysosomal accumulation diseases: implications for diagnosis and treatment control. FGBNU Medico-Genetic Research Center. M., 2018; 6–17. (In Russ.)


Review

For citations:


Barysheva O.I., Vybach M.V., Smirnova D.V. Screening diagnostics of the Fabry disease on the basis of the "V.A. Baranov Republican Hospital" in Karelia Republic. Nephrology (Saint-Petersburg). 2025;29(1):102-106. (In Russ.) https://doi.org/10.36485/1561-6274-2025-29-1-102-106. EDN: BATVYX

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ISSN 1561-6274 (Print)
ISSN 2541-9439 (Online)