European Journal of Molecular & Clinical Medicine

Abstract

The aim of the study was to study the clinical and diagnostic features of cystic fibrosis in children in Uzbekistan. The study included 120 patients with cystic fibrosis at the age of 0 months. up to 14 years old, who were inpatient treatment in the department of pulmonology, pathology of early age and gastroenterology. In children with cystic fibrosis, the main clinical symptoms of the bronchopulmonary system were: cough, shortness of breath, oral wheezing, lethargy and loss of appetite. Upon admission to the hospital, the general condition of the patients was most of all regarded as severe. The most common causative agents of the disease exacerbation were S. aureus - 32%, Str. pyogenus - 26%. Based on the results of the study, the frequency of mutations in the CFTR gene and their influence on the nature of the course were determined. A significant role has been revealed for the 4 most common gene mutations in Uzbekistan, CFTR-F508del, CFTR-2143delT, R709X, Y569D.