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Cited by 1,805Cystic Fibrosis Research AdvancesGenetic and Kidney Cyst DiseasesInhalation and Respiratory Drug Delivery

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Cystic fibrosis

Elborn, J Stuart·2016·The Lancet
DOI 10.1016/s0140-6736(16)00576-6
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Abstract

Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America, and Australia. The disease is caused by mutation of a gene that encodes a chloride-conducting transmembrane channel called the cystic fibrosis transmembrane conductance regulator (CFTR), which regulates anion transport and mucociliary clearance in the airways. Functional failure of CFTR results in mucus retention and chronic infection and subsequently in local airway inflammation that is harmful to the lungs. CFTR dysfunction mainly affects epithelial cells, although there is evidence of a role in immune cells. Cystic fibrosis affects several body systems, and morbidity and mortality is mostly caused by bronchiectasis, small airways obstruction, and progressive respiratory impairment. Important comorbidities caused by epithelial cell dysfunction occur in the pancreas (malabsorption), liver (biliary cirrhosis), sweat glands (heat shock), and vas deferens (infertility). The development and delivery of drugs that improve the clearance of mucus from the lungs and treat the consequent infection, in combination with correction of pancreatic insufficiency and undernutrition by multidisciplinary teams, have resulted in remarkable improvements in quality of life and clinical outcomes in patients with cystic fibrosis, with median life expectancy now older than 40 years. Innovative and transformational therapies that target the basic defect in cystic fibrosis…

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  • Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein.

    “Cystic fibrosis is a lethal, inherited, autosomal recessive disorder that affects approximately 80,000 people worldwide and is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein that lead to reduced CFTR function.1-3”

    From Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele (2019) · cites this paper as [2]

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Metadata

Authors
Elborn, J. S.
Affiliations
Queen's University Belfast (GB)
Corresponding author
Elborn, J Stuart
ORCID
Elborn, J Stuart
Venue
The Lancet
Publisher
Elsevier BV
Published
2016-11
Volume
388
Issue
10059
Pages
2519-2531
ISSN
  • 0099-5355 (ISSN-L)
  • 0140-6736
DOI
10.1016/s0140-6736(16)00576-6
OpenAlex
W4211056322
Cited by
1,805
References
7
Citations by year
2026: 138 · 2025: 155 · 2024: 184 · 2023: 186 · 2022: 217 · 2021: 261 · 2020: 235 · 2019: 160 · 2018: 136 · 2017: 109 · 2016: 23
FWCI
22.15
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • The Lancet (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Inhalation and Respiratory Drug Delivery
Keywords
cystic fibrosis, CFTR dysfunction, autosomal recessive disorder, mucus retention, airway inflammation, bronchiectasis, small airway obstruction, pancreatic insufficiency, biliary cirrhosis, CFTR modulators, gene therapy, pulmonary exacerbations, multidisciplinary care
MeSH terms
Australia, Bronchiectasis, Cystic Fibrosis, Epithelial Cells, Europe, Humans, Mutation, North America, Exocrine Pancreatic Insufficiency, Genetic Therapy, Cystic Fibrosis Transmembrane Conductance Regulator

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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