características de pacientes com fibrose cística diagnosticados através do programa de triagem neonatal do estado de Pernambuco

Abstract

OBJECTIVES The aim of this study was to describe the clinical, epidemiologic, laboratorial and therapeutic characteristics of patients with cystic fibrosis diagnosed by the neonatal screening program of the state of Pernambuco. METHODS Series of cases study developed in the pediatric pneumology outpatient clinic the Instituto de Medicina Integral Prof Fernando Figueira. All children diagnosed with cystic fibrosis by the neonatal screening from January 2014 through December 2016 were included. RESULTS During the study period 303.875 neonatal screening exams were done through the neonatal screening program. 35 patients with two altered dosages of imunoreative tripsine, collected before 30 days of life were referred to perform sweat test, and 14 patients were diagnosed with cystic fibrosis. Of these, one died, never having been admitted to the outpatient clinic and two others were also not admitted to the outpatient clinic. The median age of diagnosis was two months and 21 days. Within the clinical manifestations described on the admission, the most common was diarrhea, in eight (72%) patients, followed by cough in six (54,54%) of the patients, and dyspneia and steatorrhea, both in four (36,36%) patients. CONCLUSION This study described the main characteristics of the patients with cystic fibrosis diagnosed through the neonatal screening program of the state of Pernambuco.