PERFIL GENÉTICO DOS PACIENTES PORTADORES DE FIBROSE CÍSTICA ATENDIDOS EM AMBULATÓRIO DE PNEUMOLOGIA PEDIÁTRICA NA PARAÍBA

Abstract

Cystic Fibrosis is an autosomal recessive genetic disease caused by a mutation in the cystic fibrosis transmembrane regulatory gene – CFTR. It results in damage to the homeostasis of salts and fluids in the body, with variable clinical manifestations, such as chronic pulmonary disease, exocrine pancreatic insufficiency, malabsorption of nutrients, increased risk of dehydration and metabolic disorders, with a reduction in patients' life expectancy. The F508del mutation is the most prevalent worldwide. The present work analyzes the genetic typing of patients with Cystic Fibrosis in the State of Paraíba, treated at the Pediatric Pulmonology Outpatient Clinic of HULW/EBSERH/UFPB. It is an observational, descriptive, crosssectional study of a quantitative nature, with data collection through standardized interviews applied to the patients' parents and guardians after acceptance and signing of the free and informed consent form. The data were stored in the EPI INFO 7.2 statistical package and analyzed in the SPSS version 20.0 system. Among the 30 patients evaluated, 14 (46.7%) were male, 20 patients (66.7%) were white, and 6 patients (20%) died. Symptoms of steatorrhea or fecal evidence of malabsorption and persistent respiratory symptoms were observed in 19 (63.3%) of the patients. The F508del genetic variable is present in 20 (80%) of the patients, followed by 5T in 3 (10%). There was no statistical association between the symptoms and the type of mutation presented by the patients, however, analyzing the iontophoresis dosages, it was seen that there is a significant association between the measured value and the presence of the F508del mutation. The results obtained show the prevalence of the deltaF508 genetic variation in the State of Paraíba, in accordance with bibliographic findings at national and global level; as well as the relationship that the higher the iontophoresis value, the greater the chance of that patient being a carrier of F508del.