Comorbid conditions in children with cystic fibrosis from various ethnic groups of the North Caucasus Federal District

Abstract

Introduction. Cystic fibrosis (CF) is an autosomal recessive hereditary disease resulting from the presence of pathogenic nucleotide variants (NVs) in the CTFR gene, encoding a regulator of the transmembrane transport of chloride ions. CF is characterized by an impaired secretory function of the epithelial cells of exocrine glands and, as a consequence, a number of systemic progressive pathological changes in the functioning of the gastrointestinal tract, respiratory system, etc. CF might be accompanied by a number of comorbidities (CMs), including those leading to the development of mutual burden, affecting the diagnosis or choice of therapy. At the same time, of CMs repertoire in CF may vary in different ethnic groups and populations, especially geographically isolated ones. Thus, for more informed approach to the diagnosis and treatment of CF in certain ethnic groups and populations, it is necessary to determine the CMs repertoire characteristic of these groups. Materials and methods. The study included one hundred twenty five 2 months to 17 years and 11 months patients with a confirmed diagnosis of CF. The children were divided into groups according to ethnicity: residents of the Chechen Republic (71 patient), residents of the Karachay-Cherkess Republic (23 patients), residents of the Republic of Ingushetia (9 patients), the Republic of Dagestan (16 patients), the Republic of North Ossetia — Alania (6 patients). Results. The frequencies and spectrum of comorbidities (CMs) in CF children from ethnic groups living in the North Caucasus Federal District differ from those previously described for CF patients from other populations and ethnic groups. The most common CMs identified in this study are adenoid hypertrophy (n = 51; 40.8%), chronic gastritis (n = 47; 37.6%), lactase deficiency (n = 38; 30.4%), gastroesophageal reflux disease (n = 30; 24%), development retardation (n = 22; 17.6%), allergies of various origins (n = 21; 16.8%), and consequences of perinatal damage to the central nervous system (n = 11; 8.8%). Conclusion. For the early differential diagnosis of CMs and further clinical management of pediatric CF patients, it is necessary to implement an interdisciplinary approach using of medical genetic methods, as well as additional monitoring by several medical specialists. First and foremost, the decision on which medical specialists should be involved in a clinical management of such patients should be based on the CMs repertoire prevailing in a given population or ethnic group. When performing a clinical monitoring of the CF children from the ethnic groups living predominantly in the North Caucasus Federal District, it is advisable to choose the therapeutic approach that takes into account the ethnic-specific features of CMs, identified in our work.