Cystic fibrosis
Abstract
Cystic fibrosis is the most common lethal genetic disease in white populations. The outlook for patients with the disease has improved steadily over many years, largely as a result of earlier diagnosis, more aggressive therapy, and provision of care in specialised centres. Researchers now have a more complete understanding of the molecular-biological defect that underlies cystic fibrosis, which is leading to new approaches to treatment. One of these treatments, hypertonic saline, is already in use, whereas others are in advanced stages of development. We review clinical care for cystic fibrosis and discuss recent advances in the understanding of its pathogenesis, implementation of screening of neonates, and development of therapies aimed at treating the basic defect.
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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 [1]
Abnormally high sweat chloride concentration is observed in cystic fibrosis patients, and sweat chloride analysis has been adopted as the gold standard for cystic fibrosis diagnosis.
“Abnormally high sweat chloride concentration is observed in cystic fibrosis (CF) patients, and sweat chloride analysis has been adopted as the gold standard for cystic fibrosis diagnosis 75”
From A review of sampling, energy supply and intelligent monitoring for long-term sweat sensors (2022) · cites this paper as [75]
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- Authors
- O'Sullivan, B. P., & Freedman, S. D.
- Affiliations
- University of Massachusetts Chan Medical School (US)
- Beth Israel Deaconess Medical Center (US)
- Corresponding author
- O'Sullivan, Brian P
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2009-05
- Volume
- 373
- Issue
- 9678
- Pages
- 1891-1904
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W4210996550
- Cited by
- 1,320
- References
- 166
- Citations by year
- 2026: 34 · 2025: 47 · 2024: 81 · 2023: 80 · 2022: 93 · 2021: 112 · 2020: 95 · 2019: 81 · 2018: 92 · 2017: 97 · 2016: 91 · 2015: 99 · 2014: 84 · 2013: 55 · 2012: 40
- FWCI
- 8.71
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- The Journal of the American Medical Association (JAMA) Network (American Medical Association) (submittedVersion)
- 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 › Neonatal Respiratory Health Research
- Keywords
- cystic fibrosis, genetic disorders, pathogenesis, hypertonic saline, CFTR, newborn screening, clinical care, treatment development, specialist care
- MeSH terms
- Animals, Cystic Fibrosis, Disease Models, Animal, Genetic Testing, Humans, Infant, Newborn, Life Expectancy, Mutation, Prognosis, Respiratory Therapy, Saline Solution, Hypertonic, Genetic Therapy, Prevalence, Neonatal Screening, Lung Transplantation, Treatment Outcome, Practice Guidelines as Topic, Nutritional Support, Cystic Fibrosis Transmembrane Conductance Regulator, Early Diagnosis
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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