Selective screening for Fabry disease: review of literature data and experience in the Russian Federation


DOI: https://dx.doi.org/10.18565/nephrology.2020.2.61-66

A.A. Ilyushkina, G.V. Baydakova, I.O. Bychkov, N.A. Buruleva, E.Yu. Zakharova

1) Research Center for Medical Genetics n.a. Academician N.P. Bochkov, Moscow, Russia; 2) City Clinical Hospital № 52, Moscow, Russia
storage diseases caused by the GLA gene mutations, which lead to a decrease or absence of the activity of the α-galactosidase A. The clinical manifestations of FD are quite diverse, therefore, the formulation an accurate diagnosis can take a lot of time,
and screening of high-risk groups (selective screening) is used to more effectively identify patients.
Objective. Determination of the prevalence of FD among patients in hemodialysis units.
Material and methods. This article provides a review of the literature data on screening for FD among patients in hemodialysis centers and the results of authors’ own experience in screening using an original approach - the determination of the biomarker globotriaosylsphingosine (LysoGb3) in dried blood spots.
Results. The study included 4077 patients (2454 women, 1623 men) from 5 dialysis centers. 7 patients with FD were identified
(6 men, 1 woman), the prevalence of the disease in this sample was 0.17%.
Conclusion. The application of a new approach to screening for FD (determination of LysoGb3 concentration in dried blood spots) allows to identify both male and female patients.
Keywords: dried blood spots, α-galactosidase A, LysoGb3, selective screening, kidney damage, nephropathy, Fabry disease
Read entire article

About the Autors

Aleksandra A. Ilyushkina – Junior Researcher at the Laboratory of Hereditary Metabolic Diseases, Research Center for Medical Genetics n.a. Academician N.P. Bochkov; Moscow, Russia. E-mail: ilyushkina@med-gen.ru. ORCID 0000-0001-7080-7844
Galina V. Baydakova – Cand. Sc. Biology, Leading Researcher at the Laboratory of Hereditary Metabolic Diseases, Research Center for Medical Genetics n.a. Academician
N.P. Bochkov; Moscow, Russia. E-mail: baydakova@med-gen.ru. ORCID 0000-0001-8806-5287
Igor O. Bychkov – Researcher at the Laboratory of Hereditary Metabolic Diseases, Research Center for Medical Genetics n.a. Academician N.P. Bochkov; Moscow, Russia. E-mail: bychkov@med-gen.ru. ORCID 0000-0002-6594-6126
Tatyana A. Buruleva – Nephrologist at the City Clinical Hospital № 52; Moscow, Russia. E-mail: 1nephrogkb52@mail.ru.
Ekaterina Yu. Zakharova – Doctor of Medical Sciences, Head of the Laboratory of Hereditary Metabolic Diseases, Research Center for Medical Genetics n.a. Academician
N.P. Bochkov, Moscow, Russia. E-mail: zakharova@med-gen.ru. ORCID 0000-0002-5020-1180


Similar Articles

Back to Content

Бионика Медиа