RESUMO
INTRODUCTION: Cystic fibrosis (CF) is a multisystemic disease, with high morbidity and mortality, and its early diag nosis improves results. Lung conditions are the main cause of morbidity and mortality and are clo sely related to nutritional status and survival. There is little national information about the liver and gastrointestinal characteristics in pediatric patients with CF. OBJECTIVE: to describe at a gastrointes tinal level, the general, nutritional, and genetic characteristics and the evolution of CF carriers with/ without neonatal screening. PATIENTS AND METHOD: Retrospective study carried out in 4 public referral hospitals in the Metropolitan Region. The diagnosis of CF confirmed with two positive sweat tests (Gibson and Cooke method) was considered as an inclusion criterion. Those patients with unconfir med neonatal screening tests through Immunoreactive Trypsinogen (IRT) or with only one positive sweat test were excluded. Sex, age, nutritional status, date of diagnosis, clinical presentation at the onset, evolution, and therapies received were recorded as clinical variables, and as laboratory ones, genetic study by means of a diagnostic panel with 36 mutations. The STATA 12 software was used for statistical analysis. RESULTS: 127 patients were included. Respiratory manifestations (recurrent obstructive bronchial syndrome and pneumonia) were present in >60% and gastrointestinal ones (mainly malabsorption and malnutrition syndrome) in >80% of patients. On average, diagnostic confirmation took 4 months. The diagnosis guided by IRT was associated with better nutritional outcomes in the evolution of the patient. In 81.1% of the patients, the genetic study was performed. The most frequent mutations were those associated with DF508 (deletion of phenylalanine 508). 5.8% of the patients presented mutations not included in the gene panel used. CONCLUSIONS: Gas trointestinal CF appears with pancreatic, intestinal, and hepatic pathology throughout life. Malnutri tion is a frequently present factor, which worsens the prognosis. The management of gastrointestinal manifestations and malnutrition are relevant to improve the morbidity and mortality of CF patients.