Cystic Fibrosis: an overview of its basic aspects

Abstract

Advances in the knowledge of the cystic fibrosis transmembrane conductance regulator (CFTR) allows a better understanding of the pathology of this disease and the complex genotype – phenotype relationship. Various clinical phenotypes are influenced not only by the type of mutation found, but also by environmental factors and probably other regulating genes. CFTR regulates the composition and amount of fluid in epithelial respiratory tract, specifically by its action on chlorine, but also regulates different channels and transports other molecules. In addition, CFTR modulates the inflammatory response against bacterias such as Pseudomona aeruginosa and Staphylococcus aureus. All these factors are likely to influence the clinical evolution of each patient. The understanding of basic features and clinical outcome of this disease can bring new therapeutic approaches in the future.