Experience of the Center for cystic fibrosis in the Omsk Region

Abstract

Cystic fibrosis is an autosomal recessive disease caused by pathogenic variants in the nucleotide sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. As the disease affects multiple organs, an integrated approach to the treatment is essential. The most effective model of providing medical care to patients with cystic fibrosis is the organization of specialized centers.Aim. To assess the effectiveness of specialized medical care for patients with cystic fibrosis in the Children’s Center for Cystic Fibrosis from 2011 to 2023.Methods. A comparative analysis of the Center’s activities was carried out using the National Register of Cystic Fibrosis Patients for 2011 and the medical records of patients registered for follow-up in 2023.Results. The average age of the children followed at the Center increased from 7.1 to 10.4 years (Mann – Whitney; p = 0.004). In 2023, cystic fibrosis was diagnosed primarily through newborn screening (Fisher; p = 0.000). The most common clinical picture was the mixed form of cystic fibrosis. 100% of pathological alleles were identified, the frequency of the F508del allele was 57.8 – 58.9%. A predominance of “severe” genotypes was noted. The incidence of chronic infection with P. aeruginosa decreased significantly (Fisher; p = 0.002) due to the optimization of antibacterial treatment regimens, strict adherence to the sanitary and epidemiological regulations, and the use of hospitalreplacement technologies. CFTR modulators have been used in patient care since 2021. The greatest clinical efficacy was observed with the use of elexacaftor/tezacaftor/ivacaftor + ivacaftor. By the 180th day of use in children, forced expiratory volume in 1 second improved from 63.3% to 84.2% (Wilcoxon; p = 0.001), and sweat chlorides decreased by 33 mmol/l (Wilcoxon; p = 0.0001). The results of the Center’s work in 2011 – 2023 are a consequence of improved approaches to specialized medical care for cystic fibrosis.Conclusion. The creation of a multidisciplinary team for the treatment of patients with cystic fibrosis can significantly increase the level of care and improve the quality of life of patients.