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

doi:10.4081/mrm.2018.128

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

Authors

Andrea Gramegna Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Stefano Aliberti Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Manuela Seia Medical Genetics Laboratory, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Luigi Porcaro Medical Genetics Laboratory, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Vera Bianchi UOSD Genetica Medica, Medical Genetics Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano
Carlo Castellani Centro Fibrosi Cistica, Azienda Ospedaliera Universitaria Integrata, Verona
Paola Melotti Centro Fibrosi Cistica, Azienda Ospedaliera Universitaria Integrata, Verona
Claudio Sorio Dipartimento di Patologia e Diagnostica, Università di Verona, Verona
Enza Consalvo Medical Genetics Laboratory, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Elisa Franceschi Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Francesco Amati Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Martina Contarini Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Michele Gaffuri Department of Otolaryngology and Head and Neck Surgery, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milano
Luca Roncoroni Department of Otolaryngology and Head and Neck Surgery, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milano
Barbara Vigone Scleroderma Unit, Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milano
Angela Bellofiore Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Cesare Del Monaco Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Martina Oriano Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano; Molecular Medicine Department, University of Pavia, Pavia
Leonardo Terranova Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Maria Francesca Patria Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Paola Marchisio Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Baroukh M. Assael Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano
Francesco Blasi Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano

DOI: https://doi.org/10.4081/mrm.2018.128

Keywords:

Bronchiectasis, CFTR, Etiological screening, CFTR gene analysis, Sweat test

Abstract

Background: 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). Main body: 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. Conclusions: 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.