Cystic fibrosis

Isabelle Fajac; Pierre-Régis Burgel

doi:10.1016/j.lpm.2023.104169

Cystic fibrosis

Presse Med. 2023 Jul 27;52(3):104169. doi: 10.1016/j.lpm.2023.104169. Online ahead of print.

Authors

Isabelle Fajac¹, Pierre-Régis Burgel²

Affiliations

¹ Department of Respiratory Medicine and National Cystic Fibrosis Reference Centre, Cochin Hospital, Assistance Publique Hôpitaux de Paris, 27 rue du faubourg Saint-Jacques, 75014 Paris, France; Université Paris Cité, Inserm U1016, Institut Cochin, 24 rue du faubourg Saint-Jacques, 75014 Paris, France; ERN-LUNG, CF Core Network, Frankfurt, Germany. Electronic address: isabelle.fajac@aphp.fr.
² Department of Respiratory Medicine and National Cystic Fibrosis Reference Centre, Cochin Hospital, Assistance Publique Hôpitaux de Paris, 27 rue du faubourg Saint-Jacques, 75014 Paris, France; Université Paris Cité, Inserm U1016, Institut Cochin, 24 rue du faubourg Saint-Jacques, 75014 Paris, France; ERN-LUNG, CF Core Network, Frankfurt, Germany. Electronic address: pierre-regis.burgel@aphp.fr.

PMID: 37516246
DOI: 10.1016/j.lpm.2023.104169

Abstract

Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by variants in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR dysfunction results in abnormal chloride and bicarbonate transport in epithelial cells, leading to a multiorgan disease dominated by respiratory and digestive manifestations. The respiratory disease, which is characterized by airway mucus plugging, chronic bacterial infection and progressive development of bronchiectasis, may lead to chronic respiratory failure, which is the main cause of premature death in people with CF. Over the past 50 years, major progress has been obtained by implementing multidisciplinary care, including nutritional support, airway clearance techniques and antibiotics in specialized CF centers. The past 10 years have further seen the progressive development of oral medications, called CFTR modulators, that partially restore ion transport and lead to a major improvement in clinical manifestations and lung function, presumably resulting in longer survival. Although an increasing proportion of people with CF are being treated with CFTR modulators, challenges remain regarding access to CFTR modulators due to their high cost, and their lack of marketing approval and/or effectiveness in people with rare CFTR variants. The anticipated increase in the number of adults with CF and their aging also challenge the current organization of CF care. The purpose of this review article is to describe current status and future perspective of CF disease and care.

Keywords: Bronchiectasis; CFTR modulators; Cystic fibrosis transmembrane conductance regulator (CFTR); Pseudomonas aeruginosa.