Multidisciplinary Respiratory Medicine (Aug 2018)
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
Affiliations
- 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
- 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
- Manuela Seia
- Medical Genetics Laboratory, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- Luigi Porcaro
- Medical Genetics Laboratory, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- Vera Bianchi
- UOSD Genetica Medica, Medical Genetics Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- Carlo Castellani
- Centro Fibrosi Cistica, Azienda Ospedaliera Universitaria Integrata
- Paola Melotti
- Centro Fibrosi Cistica, Azienda Ospedaliera Universitaria Integrata
- Claudio Sorio
- Dipartimento di Patologia e Diagnostica, Università di Verona
- Enza Consalvo
- Medical Genetics Laboratory, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- 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
- 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
- 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
- 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
- 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
- Barbara Vigone
- Scleroderma Unit, Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di 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
- 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
- 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
- Leonardo Terranova
- Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- 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
- Paola Marchisio
- Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- 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
- 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
- DOI
- https://doi.org/10.1186/s40248-018-0142-7
- Journal volume & issue
-
Vol. 13,
no. S1
pp. 21 – 27
Abstract
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.
Keywords
