Clinical and genetic features of connective tissue dysplasia syndrome in cystic fibrosis in children

The aim of the study was to determine the clinical and genetic features of the syndrome of undifferentiated connective tissue dysplasia (CTD) in cystic fibrosis (CF) children and the possible modifying effect of polymorphisms of connective tissue genes on the development of severe pathology of the bronchopulmonary system in CF cases. 188 patients with the moderate to severe course of СF, aged from 3 to 17 years were examined. In СF patients significant associations have been established between polymorphisms of matrix metalloproteinase 3, the phenotypic signs of CTD and severe clinical signs of respiratory disorders.