DOI: 10.18413/2658-6533-2023-9-4-0-4

Clinical and genetic characteristics of cystic fibrosis in the Republic of Bashkortostan

Background: According to estimates of the World Health Organization, 40-50 thousand children worldwide are born each year with cystic fibrosis (CF), a monogenic disease with genetic heterogeneity and clinical variability due to regional and ethnic differences in the gene pool of populations. Monitoring of disease course and molecular pathogenesis in patients from different regions of multinational Russia is necessary to optimize algorithms of medical genetic counseling and improve the quality of life of patients. The aim of the study: Generalization and systematization of the results of dynamic clinical observations, laboratory and molecular genetic studies of patients with cystic fibrosis from the Republic of Bashkortostan (RB) to monitor the effectiveness of work with patients according to the registry of CF patients of the Republic of Bashkortostan, improvement of medical and genetic care for burdened families. Materials and methods: The study group included cystic fibrosis patients, their family members, and patients from the cystic fibrosis risk group living in the Republic of Bashkortostan – 400 people. Clinical-laboratory, molecular-genetic and statistical research methods, bioinformatic processing of NGS sequencing results were used. Results: During the period from 2019 to 2022 the number of patients in RB increased from 80 to 94, the incidence was 1.9 and 2.297 per 100 thousand population, respectively. The diagnosis was confirmed in the course of DNA diagnosis of 94 patients with cystic fibrosis in the Republic of Bashkortostan. Regional peculiarities of CF genetic architecture were determined: these are 12 pathogenic nucleotide sequence variants in CFTR gene: Phe508del, E92K, CFTRdele2,3, 3849+10kbC>T, L138ins, G509D, 394delTT, N1303K, W1282X, Y84X, 2143delT, 1525-1G>A are 94.9%, the frequency of the complex allele – c.1399C>T (p.Leu467Phe, L467F) – 16.6%. Patients were prescribed targeted therapy. Conclusion: The study allowed us to identify regional peculiarities of clinical and genetic aspects of CF in order to apply a differential and personalized approach in the provision of medical care and planning of measures to improve the quality of life of CF patients in the region.

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