ANALYZIS OF THE EPIDEMIOLOGY OF CYSTIC FIBROSIS AND THE APPLICATION OF MOLECULAR DIAGNOSTIC IN BRAZIL FROM 2009 TO 2018

Abstract

Cystic Fibrosis is characterized by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, causing changes in the chloride channel, which increases mucus viscosity and causes different clinical manifestations. The current study analyzes the epidemiology of Cystic Fibrosis and the application of molecular diagnostic in Brazil. This was a longitudinal retrospective and quantitative study, that was carried out through data collection through the Grupo Brasileiro de Estudos de Fibrose Cística (GBEFC), plataform of Registro Brasileiro de Fibrose Cística (REBRAFC), whose tabulation of the data was made by Microsoft Office Excel program® 2010, with generation of graphs and tables. The largest number of patients with cystic fibrosis was found in the Southeast and South regions, with prevalence higher in males in all the years studied. Unlike in previous years, in 2017 and 2018 the vast majority of patients affected by the disease underwent some type of molecular test, enabling a reduction in the age at which the diagnosis occurred over the years. Despite this advance, molecular tests are not the standard diagnosis of the disease, although they are more sensitive and specific. This fact shows the need for studies on the genetics of the disease in order to disseminate molecular techniques as a diagnosis and to develop better forms of treatment.