Fibrose cística no Amazonas: caracterização clínica, diagnóstica e genética

Abstract

Cystic Fibrosis is an autosomal recessive, clinically progressive genetic disease caused by a pathogenic variation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Objective: To carry out a sociodemographic characterization of the aspects involved in the diagnosis process, as well as to portray aspects of access to treatment and characteristics related to the genetic issue of the people with Cystic Fibrosis participating in the study. Methodology: This is a descriptive, retrospective and cross-sectional quantitative study. The population was obtained from the active registry of the neonatal screening program in Amazonas. A semi-structured questionnaire was used to obtain data on the participants' social, clinical, diagnostic and treatment backgrounds. Genetic-hereditary data was collected from medical records. For the quantitative analysis, the data was grouped into categories and tabulated in Microsoft® Excel spreadsheets. Results: It was possible to characterize the social, diagnostic, treatment and genetic conditions of the fibrocystic patients being monitored. Conclusion: The heel prick test is extremely important for early diagnosis, as well as access to diagnosis and treatment through the SUS. The need to intervene in access to genetic counseling stands out, with a view to making informed decisions regarding family planning