Cystic fibrosis register in the Astrakhan region: state of the problem according to 2021 data

Background. In most European countries, as well as in the USA and Canada, there are and effectively functioning national cystic fibrosis (CF) registries. The first attempt to form a register of patients with cystic fibrosis in the Russian Federation was made in 2011. Since that time, the data has been updated annually, which are subsequently summarized with the pan-European ones. The format of most registries is similar and includes demographic indicators, data on CF diagnostics and genetics, height-weight characteristics, and respiratory function characteristics, respiratory tract microbiota variability, pulmonary and extrapulmonary complications, and treatment prescribed. Objective. Discussion of the spectrum of CFTR genetic mutations, variants of course, the frequency and nature of complications, as well as the treatment prescribed for patients with CF in the Astrakhan region according to the register for 2021. Methods. In 2021, 23 patients were followed-up in the Astrakhan region. Their mean age was 12.6±8.8 years (median age 11.6 years). The genotype of the examined patients is presented in such a way that the frequency of the F508del genetic sequence was determined in 16 (69.5%) patients. Results. Mean body mass index (BMI) among adults ranged from 18.1 to 22.4 kg/m2. The median BMI percentile among children was 17.8 (CI: 13.8.5-23.6 kg/m2). The spectrum of complications in patients with CF living in the Astrakhan region was presented as follows: liver cirrhosis without portal hypertension in 4 (17.4%) patients, lag in physical development in 6 (26%), protein-energy malnutrition was diagnosed in 6 (26%), impaired glucose tolerance - in 1 (4.3%), nasal polyposis according to computed tomography of the paranasal sinuses was detected in 5 (21.7%) patients. In 12 (52.1%) of the examined patients, Pseudomonas aeruginosa was identified in the sputum. Staphylococcus aureus was the dominant microorganism in 5 (21.7%) patients. In 6 (26.1%) children of primary and preschool age, the respiratory tract micro flora was represented by opportunistic pathogens. All patients received conventional basic therapy. Conclusion. Maintaining a regional CF register is considered an important task that contributes to the assessment of the state of the problem in the region. The analysis is dynamic, which allows to track the main trends in the genetic, microbiological, clinical profiles of patients and optimize the organization of care for CF patients in the Astrakhan region.

registry, cystic fibrosis