Objective: To analyze the characteristics of cystic fibrosis (CF) care centers (CFCCs) in Brazil. Methods: A questionnaire was sent to the coordinators of all 51 registered CFCCs between May and September of 2021. Results: The response rate was 100%. Southeastern Brazil is the region where most of the CFCCs in the country are located (21 centers; 41%), followed by the southern and northeastern regions (11 centers each; 21.5%), the central-western region (6; 12%), and the northern region (2; 4%). A total of 4,371 patients with CF were cared for in Brazil during the study period, ranging from 7 to 240 patients per center (mean, 86 patients/center; median, 75 patients/center); 2,197 patients (50%) were cared for in centers in the southeastern region of the country, particularly in the state of São Paulo (33%), the remaining patients being treated in southern Brazil (1,014 patients, 23%), northeastern Brazil (665 patients, 15%), central-western Brazil (354 patients, 8%), and northern Brazil (141 patients, 4%). Overall, 47 centers (92%) reported having an incomplete multidisciplinary team; 4 (8%) lacked essential team members; 6 (12%) lacked a physical therapist; 5 (10%) lacked a dietitian; 17 (33%) lacked outpatient nursing care; 13 (25%) lacked outpatient social work services; 14 (27%) lacked a psychologist; and 32 (63%) lacked a clinical pharmacist. Seven CFCCs (14%) in the northern and northeastern regions of Brazil reported that the quality of newborn screening for CF was poor. All centers reported having difficulties in accessing CF medications. Conclusions: Brazilian CFCCs experience multiple problems, including inadequate staffing, infrastructure, testing, and medication supply. There is an urgent need to regulate the implementation of CF referral centers and an appropriate network structure for the diagnosis and follow-up of CF patients using optimal treatment recommendations.

Keywords: Cystic fibrosis; Neonatal screening; Quality of life; Genetic diseases, inborn; Lung diseases.

Objectives: To evaluate the evolution pattern of dynamic pulmonary flow and volume in cystic fibrosis patients and analyze the relation between the severity of ventilatory attacks and age, gender, genotype and pulmonary colonization. Methods: At the Pediatric Pulmonary Unit and Pulmonary Service of Hospital de Clínicas of Porto Alegre, 243 spirometries performed between 1987 and 1999 in 52 cystic fibrosis patients older than four years of age were reviewed. From the patients' medical records the following informations were extracted: age at diagnosis, genetic data, bronchial colonization and absolute as well as percent values of the flows and volumes of the best annual spirometry. Results: The age of the patients ranged from four to 26 years (mean = 13.04 ± 4.82). Out of the 52 patients, 49 (94%) had at least one sputum culture with P. aeruginosa, 45 (86%) with S. aureus and 13 (25%) with B. cepacia. At initial evaluation, that included patients four to six years old (n = 40), mean values for FVC and FEV1 were 114.24% and 112.25%, respectively. Mean FVC remained above baseline until 18 years of age, when it abruptly dropped to 67.2% (p = 0.0002). Mean FEV1 values dropped to less than 80% at ten years and was 50% at 18 years (p < 0.00001). The FEV1/FVC% relationship, the most obstruction sensitive index, was observed to be reduced as early as initial evaluation. It was 85% between four and six years and gradually decreased to 63% at 18 years. The mean values of FEF50, FEF75 and FMEF were initially normal (94%, 80% and 90%, respectively), showed a greater and earlier statistically significant decline, and reached to 37%, 12.5% and 19%, respectively, at 18 years. Although a tendency to lower terminal flow was seen in the girls, the differences were not statistically significant. Significant correlations between pulmonary function and the airway colonizator or genotype were not detected statistic. Conclusion: The evolution pattern of pulmonary function alterations found in these patients is consistent with those reported in the literature, where obstructive ventilatory disorders with early terminal flow reduction and late FVC onset predominate.

Keywords: Spirometry. Cystic fibrosis. Pulmonary ventilatory.

Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It is a multisystem disease that most often affects White individuals. In recent decades, various advances in the diagnosis and treatment of CF have drastically changed the scenario, resulting in a significant increase in survival and quality of life. In Brazil, the current neonatal screening program for CF has broad coverage, and most of the Brazilian states have referral centers for the follow-up of individuals with the disease. Previously, CF was limited to the pediatric age group. However, an increase in the number of adult CF patients has been observed, because of the greater number of individuals being diagnosed with atypical forms (with milder phenotypic expression) and because of the increase in life expectancy provided by the new treatments. However, there is still great heterogeneity among the different regions of Brazil in terms of the access of CF patients to diagnostic and therapeutic methods. The objective of these guidelines was to aggregate the main scientific evidence to guide the management of these patients. A group of 18 CF specialists devised 82 relevant clinical questions, divided into five categories: characteristics of a referral center; diagnosis; treatment of respiratory disease; gastrointestinal and nutritional treatment; and other aspects. Various professionals working in the area of CF in Brazil were invited to answer the questions devised by the coordinators. We used the PubMed database to search the available literature based on keywords, in order to find the best answers to these questions.

Keywords: Cystic fibrosis/diagnosis; Cystic fibrosis/therapy; Cystic fibrosis/complications; Practice guideline.