Affiliation:
1. Kazan State Medical University;
Republican Clinical Hospital
2. Kazan State Medical University
Abstract
Introduction. Cystic fibrosis is a hereditary disease characterized by the defeat of all exocrine glands, vital organs and systems. Currently, the life expectancy of patients with cystic fibrosis is increasing due to the development of new therapies.Goal. Analysis of the results of a comprehensive examination of patients with cystic fibrosis under the supervision of a pulmonologist of Republican Clinical Hospital (RCH) of the Ministry of Health of the Republic of Tatarstan.Materials and methods. The analysis of the database of patients with cystic fibrosis, older than 18 years, registered in the Regional Center of cystic fibrosis of the Republic of Tatarstan (RT).Results. As of April 2023, 47 patients over the age of 18 with a diagnosis of cystic fibrosis were registered in the RCH of the Ministry of Health of the Republic of Tatarstan. The diagnosis was made on the basis of a positive sweat sample and/or a genetic study. The age of patients is from 18 to 39 years (26.1 ± 1.1 years). Women – 49%, men – 51%. Median body weight – 51.5 kg, height – 165 cm, BMI – 18.05 kg/m2. 25 patients (53.2%) had a BMI of less than 18.5 kg/m2. Among patients in RT, the most common mutation is F508del. When assessing the microbiological profile of the respiratory tract, chronic infection was detected in 37 patients (78.7%). Ps. aeruginosa (66.0%) and S.aureus (35.6%) were the most frequently sown. The average FVC indicators were 72.6 ± 4.3% predicted values, the average FEV1 indicators were 61.6 ± 28.1% predicted values.Conclusion. On the territory of the Republic of Tatarstan in patients with cystic fibrosis, the F508del mutation was detected in 30 (66.7%) adult patients, 9 of whom receive targeted therapy elecsacaftor / tezacaftor / ivacaftor+ ivacaftor with a pronounced positive effect. The high incidence of P. aeruginosa infection (66.0%) and a decrease in respiratory function among adult patients indicate a more severe course of cystic fibrosis.
Reference25 articles.
1. Капранов НИ, Каширская НЮ. Муковисцидоз. M.: Медпрактика-М; 2014. 680 с. Режим доступа: https://www.medpractika.ru/books/new/?id=316.
2. Кондратьева ЕИ, Каширская НЮ, Капранова НИ (ред.). Национальный консенсус «Муковисцидоз: определение, диагностические критерии, терапия». 2-е изд. М.: БОРГЕС; 2018. 356 с. Режим доступа: https://mukoviscidoz.org/doc/konsensus/2019/konsensus-2019-bez-rentgenogramm.pdf.
3. Ferec C, Scotet V. Genetics of cystic fibrosis: Basics. Arch Pediatr. 2020;27(Suppl 1):eS4–eS7. https://doi.org/10.1016/S0929-693X(20)30043-9.
4. Derichs N. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis. Eur Respir Rev. 2013;22(127):58–65. https://doi.org/10.1183/09059180.00008412.
5. Баранов АА, Намазова-Баранова ЛС, Куцев СИ, Авдеев СН, ПолевиченкоЕВ, Белевский АС и др. Кистозный фиброз (муковисцидоз): клинические рекомендации. М.; 2021. Режим доступа: https://cr.minzdrav.gov.ru/schema/372_2.