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


Дәйексөз келтіру

Толық мәтін

Ашық рұқсат Ашық рұқсат
Рұқсат жабық Рұқсат берілді
Рұқсат жабық Рұқсат ақылы немесе тек жазылушылар үшін

Аннотация

Storage diseases caused by the GLA gene mutations, which lead to a decrease or absence of the activity of the a-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, i woman), the prevalence of the disease in this sample was o.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.

Толық мәтін

Рұқсат жабық

Авторлар туралы

A. Ilyushkina

Research Center for Medical Genetics n.a. Academician N.P. Bochkov

Email: ilyushkina@med-gen.ru
Junior Researcher at the Laboratory of Hereditary Metabolic Diseases Moscow, Russia

G. Baydakova

Research Center for Medical Genetics n.a. Academician N.P. Bochkov

Email: baydakova@med-gen.ru
Cand. Sc. Biology, Leading Researcher at the Laboratory of Hereditary Metabolic Diseases Moscow, Russia

I. Bychkov

Research Center for Medical Genetics n.a. Academician N.P. Bochkov

Email: bychkov@med-gen.ru
Researcher at the Laboratory of Hereditary Metabolic Diseases Moscow, Russia

N. Buruleva

City Clinical Hospital № 52

Email: 1nephrogkb52@mail.ru
Nephrologist Moscow, Russia

E. Zakharova

Research Center for Medical Genetics n.a. Academician N.P. Bochkov

Email: zakharova@med-gen.ru
Doctor of Medical Sciences, Head of the Laboratory of Hereditary Metabolic Diseases Moscow, Russia

Әдебиет тізімі

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