The Cystic Fibrosis Patient Registry as a guarantee of effective disease management

Abstract

The aim of the study was to analyze the data of Ukrainian cystic fibrosis (CF) patients entered to the European Cystic Fibrosis Society Patient Registry (ECFSPR) during 2017–2018 years, and compare with the parameters entered in previous years. Materials and methods. Using the computer program ecfstracker.eu, the clinical, paraclinical and molecular genetic data of CF patients were analyzed and their statistical analysis was performed. Research results. Among 210 CF patients 49 alleles and 68 different genotypes of the CF transmembrane conductance regulator gene were identified. It was found that 57% of CF patients were homozygous for the F508del major mutation, and 31% — heterozygous. The ratio of the proportion of СF patients between children and adults (over 18 years) was 78% and 22%, with an increasing in the proportion of adult patients compared to previous years. Conclusions. The entering data CF patients to the ECFSPR opens new opportunities for a comprehensive analysis of the disease at both on the regional (the center) and on the continental levels. Studying the experience and management of the disease based on the experience of 35 European countries (over 40,000 patients) will not only help to compare the data of Ukrainian patients, but also borrow the best monitoring and treatment schemes from European countries, which help to organize and optimize medical care in Ukraine. No conflict of interest was declared by the authors. Key words: The European Cystic Fibrosis Society Patient Registry, gene, genotype, DNA, molecular genetic research, cystic fibrosis, mutation, CFTR.