Some Clinical and Genetic Characteristics of Pediatric Patients With Cystic Fidosis in the Republic of Belarus

The study presents clinical and genetic data of pediatric patients with cystic fibrosis. The purpose of this study was to study the characteristics of patients depending on the region of residence in the Republic of Belarus.

A retrospective analysis of data from 151 patients carried out using statistical data, the results of genetic testing, and data on the age of diagnosis.

Based on the results of the study, the prevalence of CF among the child population (0.09 cases per 1000 children), primary incidence (0.004 new cases per 1000 children), the average age of patients (9.9 ± 3.8 years), the average age of diagnosis was determined (1.8 years), median diagnosis (0.3 years), proportion of significant mutations (F508del – 54.1 %, CFTRdele2.3 – 11.1 %, 2184insA – 6.1 %, N1303K – 2.7 % , G542X – 1.7 %, W1282R – 1.0 %).

All indicators determined for 7 regions of the Republic of Belarus, the features of the prevalence of the disease and the identification of allelic variants of mutations analyzed depending on the patient’s place of residence.

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