Репозиторий Университета

© 2018 Medical Education. All Rights Reserved. Chronic rhinosinusitis with nasal polyps (CRS NP) is the most prevalent ear, nose, and throat (ENT) disorder in cystic fibrosis (CF) patients. CRS NP can occur in CF children at the age of ≥ 8 months and becomes the chronic disease. Tenacious secret and bacterial infection cause obstruction, edema and hypoxia of paranasal sinuses and contribute to significant morbidity in CF patients. The active monitoring and treatment of CRS NP aimed at improvement of the aeration of paranasal sinuses, mucociliary clearance, and the control of chronic upper airway infection are necessary. Functional Endoscopic Sinus Surgery (FESS) may be the method of choice if surgical treatment is considered. FESS facilitates paranasal sinuses drainage. Due to recurrent course of CRS NP in most CF patients, lifelong follow-up by an ENT specialist and postoperative management using topical steroids and/or antibiotics are required.

© 2018 Publishing House of the Union of Pediatricians. All rights reserved. Background. Cystic fibrosis is a hereditary disease that occurs as a result of mutations in the regulator gene of chloride ion transmembrane transport (CFTR). Finding mutations in the CFTR gene is necessary for identification of the clinical features of cystic fibrosis. Objective. Our aim was to identify genotype-phenotype correlations between mutations of the first class of pathogenicity and clinical manifestations of cystic fibrosis based on studying the prevalence and structure of CFTR gene mutations. Methods. The study included children under 18 years with cystic fibrosis admitted to hospital between 2013 and 2017. Biallelic mutations in the CFTR gene were the non-inclusion criterion. The CFTR gene variants were analyzed by next-generation sequencing method. Results. In 125 patients with cystic fibrosis, 59 different variants of the CFTR gene were detected, 11 of them not previously described. The most common was the deletion c.1521-1523del found in 98 (39.2%) of the 250 analyzed CFTR gene alleles and the deletion c.1545-1546del found in 22/250 (8.8%) alleles. It has been shown that the mutation c.1545-1546del, p.Y515∗ was more often found in children of the Chechen nation-odds ratio (OR) 139 (95% confidence interval 15-1,257). It has been established that meconium ileus, pancreatic deficiency and cirrhosis are more common in patients with mutations of the first category of pathogenicity: OR 3.9 (95% CI 1.0-15.0), 4.4 (95% CI 1.8-11.1), and 351 (95% CI 17.5-7,046), respectively. The association of CFTR gene mutations with the development of bronchiectases and polypous pancinusitis has not been found. Conclusion. Correlations between the genotype and clinical manifestations of cystic fibrosis in Russian children with CFTR gene mutations of the first class of pathogenicity have been established.