Brazilian guidelines for the diagnosis and treatment of cystic fibrosis

Abstract

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.

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

“…In fact, the mean age of survival of CF has risen from early childhood in the 1960s to 40-50 years currently in several countries, although it still is much lower in certain regions worldwide. The "backbone" of CF treatment is symptomatic, focusing on the compensation of pancreatic insufficiency and intestinal malabsorption with pancreatic enzymes, fat-soluble vitamins, and high-calorie ingestion, as well as slowing lung function deterioration with physical and inhaled therapies to enhance airway clearance, antiinflammatory drugs, and antibiotic therapy to eradicate infections (Cohen-Cymberknoh et al, 2011;Athanazio et al, 2017;Castellani et al, 2018). At late stages of disease, lung transplantation remains the only feasible intervention (Stephenson et al, 2017;Ramos et al, 2019), although still presenting a risk of cellular rejection (Calabrese et al, 2015).…”

Assistência de enfermagem no ambulatório ao paciente com fibrose cística

“…However, there are variations between regions, with higher values in the states of the South. 2 It is known that CF is detectable as early as in neonatal screening, in the pre-symptomatic phase, in all live births, and is one of the main pulmonary diseases of childhood. In Brazil, it has an approximate incidence of 1:10 thousand live births.…”

Avaliação do impacto da realização de espirometria na consulta médica nas condutas clínicas em pacientes com fibrose cística

“…Por ser um procedimento de baixo risco ao paciente, é recomendado que a sua realização já deva ser tentada a partir da faixa etária pré-escolar, dependendo do nível de desenvolvimento da criança. Atualmente, existe na literatura a recomendação que se realize a espirometria nos pacientes com FC em todas as consultas clínicas, a fim de identificar exacerbações pulmonares, avaliar resposta às medidas terapêuticas e monitorar a progressão da doença pulmonar [5][6][7][8] .…”

“…Outras medicações de uso crônico para o tratamento da doença pulmonar, como a azitromicina e a tobramicina inalatória, têm também o perfil de colonização bacteriana como critério clínico para sua indicação associado à gravidade do comprometimento de função pulmonar 30 Pacientes com VEF1 em torno de 30% do valor previsto tem uma sobrevida esperada de 2 anos em 50% dos casos; visto que a espera descrita na literatura para o transplante de pulmão é de aproximadamente 2 anos, um VEF1 de 30% do previsto é uma referência muito citada para indicação de encaminhamento para transplante pulmonar. Ainda assim, cerca de 25% dos pacientes morrem na fila do transplante 5,6,31,32 .…”

“…Participaram do estudo 80 pacientes, com idade média de 18 (22,5) 9 (11,3) 28 (40,6) 11 (15,9) 25 (36,2) 5 (7,2) 19 (33,3) 15 (…”