Brazilian guidelines for the diagnosis and treatment of cystic fibrosis
Authors: Athanazio Rodrigo Abensur , Silva Filho Luiz Vicente Ribeiro Ferreira da , Vergara Alberto Andrade , Ribeiro Antônio Fernando , Riedi Carlos Antônio , Procianoy Elenara da Fonseca Andrade , Adde Fabíola Villac , Reis Francisco José Caldeira , Ribeiro José Dirceu , Torres Lídia Alice , Fuccio Marcelo Bicalho de , Epifanio Matias , Firmida Mônica de Cássia , Damaceno Neiva , Ludwig-Neto Norberto , Maróstica Paulo José Cauduro , Rached Samia Zahi , Melo Suzana Fonseca de Oliveira , Pinto Leonardo Araújo , Monte Luciana Freitas Velloso , Higa Laurinda Yoko Shinzato , Folescu Tania Wrobel , Marson Fernando Augusto de Lima , Sad Isabela , Servidoni Maria de Fátima Correa Pimenta , Kussek Paulo , Raskin Salmo , Zuana Adriana Della , Augustin Albin , Hoffmann Anneliese , Barbisan Beatriz , Hochhegger Bruno , Levy Carlos Emilio , Veiga Claudine Sarmento da , Ricachinevsky Claudio , Esposito Concetta , Escuissato Dante , Brandemburgo Diego , Marques Elisabeth , Aquino Evanirso de , Fischer Gilberto Bueno , Rodrigues Joaquim Carlos , Machado Leticia , Muramato Lucia , Costa Lusmaia Damasceno Camargo , Donadio Marcio , Castro Marcos César Santos de , Ribeiro Maria Angela , Santana Maria Angélica , Canan Mariane , Almeida Marina Buarque de , Britto Murilo , Dalcin Paulo Roth Tarso , Ramos Regina Terse Trindade , Chiba Sonia , Martins Valéria de Carvalho , Lacerda Claudine , Barbosa Eliana , Guimarães Elizabet Vilar , Hessel Gabriel , Gurmini Jocemara , Neri Lenycia , Nogueira Marcelo Coelho , Wayhs Mônica Chang , Simon Miriam Isabel Santos , Fernandes Arlene Gonçalves dos Santos , Silva Claudia de Castro de , Albuquerque Cristiano Túlio Maciel , Souza Edna Lúcia , Silva Fernando Antonio de Abreu e , Dalcin Paulo de Tarso , Noronha Renata Maria de , Teixeira Ricardo , Machado Sandra Helena , Camargo Spencer Marcantonio , Rozov Tatiana , Rodrigues Ticiana da Costa 
Published: July 2017

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.