Characteristics of mukoviscisidosis in the southern regions of Russia-Reference-Cited by-同舟云学术

Characteristics of mukoviscisidosis in the southern regions of Russia

Published:2022-04-06 Issue:4 Volume: Page:108-119
ISSN:2658-5790
Container-title:Meditsinskiy sovet = Medical Council
language:
Short-container-title:Medicinskij sovet

Author:

Kondratieva E. I.¹^ORCID,Trishina S. V.²^ORCID,Yurieva A. V.²,Komlev N. V.²^ORCID,Tanaga V. A.²^ORCID,Terentiev V. A.²,Voronkova A. Yu.¹^ORCID,Amelina E. L.³^ORCID,Chernyak A. V.³^ORCID,Krasovskiy S. A.⁴^ORCID,Brisin V. Yu.⁵,Khachiyan M. M.⁵^ORCID,Vodovozova E. V.⁶,Enina E. A.⁷^ORCID,Ledeneva L. N.⁶,Yagubyants E. T.⁸,Chepurnaya M. M.⁸

Affiliation:

1. Research Centre for Medical Genetics named after academician N.P. Bochkov

2. Medical Academy named after S.I. Georgievsky, Vernadsky Crimean Federal University

3. Research Institute for Pulmonology of the Federal Medical Biological Agency

4. Research Centre for Medical Genetics named after academician N.P. Bochkov; Research Institute for Pulmonology of the Federal Medical Biological Agency

5. Children’s Regional Clinical Hospital

6. Stavropol State Medical University

7. Stavropol State Medical University; Regional Children Clinical Hospital

8. Regional Children’s Clinical Hospital

Abstract

Introduction. Cystic fibrosis (CF) is a hereditary disease with genetic heterogeneity and clinical polymorphism. Expanding the range of knowledge about the characteristics of the course of the disease in different regions is important to achieve the goal of improving the quality and life expectancy.Purpose. Comparative analysis of the features of the course of CF in the subjects of the Southern Federal District, Stavropol Territory.Methods. Data from the National Register of Patients of the RF MV 2016 were used. Results: there are clinical and genetic features between the regions of the Southern Federal District and the Stavropol Territory of the North Caucasus Federal District and in general with the Russian Federation. Analysis of the data showed differences in indicators: the proportion of patients aged ≥ 18 is the lowest in the Republic of Crimea (14.9%), in the Rostov region the lowest average age of patients (9.0 ± 6.3), and the lowest age of diagnosis 2.2 ± 3.1 years. Late terms of diagnosis were revealed in the Stavropol Territory (4.0 ± 8.0 years), but here there is one of the highest average age of CF patients (14.1 ± 11.5), the proportion of adult patients (23.3%) and the lowest allelic frequency of F508del, which is determined by the high number of patients with a “soft” genotype. There is a high proportion of patients with an undetermined genotype. A low proportion of two identified genetic variants of the CFTR gene is registered in patients of the Republic of Crimea. A low frequency of Burkholderia cepacia complex and Achromobacter spp was revealed, and a high infection with non-tuberculous mycobacteria was revealed in the Rostov region. FEV1 in children and adults was lower in Rostov Region and Stavropol Territory. In all regions, there is a discrepancy between the seeding of flora and azithromycin therapy and the severity of the genotype with the use of pancreatic enzymes.Conclusions. Analysis of the data of the registry, which allows substantiating the need to study the regional characteristics of the course of CF in order to differentiate the planning of measures to improve the quality of medical care for patients with CF.

Publisher

Remedium, Ltd.

Subject

General Medicine

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