When and how ruling out cystic fibrosis in adult patients with bronchiectasis

Andrea Gramegna, Stefano Aliberti, Manuela Seia, Luigi Porcaro, Vera Bianchi, Carlo Castellani, Paola Melotti, Claudio Sorio, Enza Consalvo, Elisa Franceschi, Francesco Amati, Martina Contarini, Michele Gaffuri, Luca Roncoroni, Barbara Vigone, Angela Bellofiore, Cesare Del Monaco, Martina Oriano, Leonardo Terranova, Maria Francesca Patria, Paola Marchisio, Baroukh M. Assael, Francesco Blasi

Bronchiectasis is the final result of different processes and most of the guidelines advocate for a careful evaluation of those etiologies which might be treated or might change patients' management, including cystic fibrosis (CF). CFTR mutations have been reported with higher frequency in bronchiectasis population. Although ruling out CF is considered as a main step for etiological screening in bronchiectasis, CF testing lacks of a standardized approach both from a research and clinical point of view. In this review a list of most widely used tests in CF is provided. Exclusion of CF is imperative for patients with bronchiectasis and CFTR testing should be implemented in usual screening for investigating bronchiectasis etiology. Physicians taking care of bronchiectasis patients should be aware of CFTR testing and its limitations in the adult population. Further studies on CFTR expression in human lung and translational research might elucidate the possible role of CFTR in the pathogenesis of bronchiectasis.