Cystic fibrosis
File(s)
Accepted version
Author(s)
Type
Journal Article
Abstract
Cystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect. The CFTR protein functions as an ion channel that is crucial for correct ion and fluid transport across epithelial cells lining the airways and other organs. Consequently, CFTR dysfunction causes a complex multi-organ disease but, to date, most of the morbidity and mortality in people with cystic fibrosis is due to muco-obstructive lung disease. Cystic fibrosis care has long been limited to treating symptoms using nutritional support, airway clearance techniques and antibiotics to suppress airway infection. The widespread implementation of newborn screening for cystic fibrosis and the introduction of a highly effective triple combination CFTR modulator therapy that has unprecedented clinical benefits in up to 90% of genetically eligible people with cystic fibrosis has fundamentally changed the therapeutic landscape and improved prognosis. However, people with cystic fibrosis who are not eligible based on their CFTR genotype or who live in countries where they do not have access to this breakthrough therapy remain with a high unmet medical need.
Date Issued
2024-08-08
Date Acceptance
2024-07-09
Citation
Nature Reviews Disease Primers, 2024, 10
ISSN
2056-676X
Publisher
Nature Research
Start Page
53
Journal / Book Title
Nature Reviews Disease Primers
Volume
10
Issue
1
Copyright Statement
Copyright © Springer Nature Limited 2024. This is the author’s accepted manuscript made available under a CC-BY licence in accordance with Imperial’s Research Publications Open Access policy (www.imperial.ac.uk/oa-policy)
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/39117676
PII: 10.1038/s41572-024-00538-6
Subjects
Humans
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Quinolones
Aminophenols
Mutation
Infant, Newborn
Benzodioxoles
Neonatal Screening
Publication Status
Published
Coverage Spatial
England
Article Number
53
Date Publish Online
2024-08-08