The DOI matches its Crossref record; 194 of the 195 references it cites were found in a registry or an index.
Cystic fibrosis
Open accessAbstract
Cystic fibrosis is a monogenic disease considered to affect at least 100 000 people worldwide. Mutations in CFTR, the gene encoding the epithelial ion channel that normally transports chloride and bicarbonate, lead to impaired mucus hydration and clearance. Classical cystic fibrosis is thus characterised by chronic pulmonary infection and inflammation, pancreatic exocrine insufficiency, male infertility, and might include several comorbidities such as cystic fibrosis-related diabetes or cystic fibrosis liver disease. This autosomal recessive disease is diagnosed in many regions following newborn screening, whereas in other regions, diagnosis is based on a group of recognised multiorgan clinical manifestations, raised sweat chloride concentrations, or CFTR mutations. Disease that is less easily diagnosed, and in some cases affecting only one organ, can be seen in the context of gene variants leading to residual protein function. Management strategies, including augmenting mucociliary clearance and aggressively treating infections, have gradually improved life expectancy for people with cystic fibrosis. However, restoration of CFTR function via new small molecule modulator drugs is transforming the disease for many patients. Clinical trial pipelines are actively exploring many other approaches, which will be increasingly needed as survival improves and as the population of adults with cystic fibrosis increases. Here, we present the current understanding of CFTR mutations, protein function, and disease pathophysiology, consider strengths and limitations of current management strategies, and look to the future of multidisciplinary care for those with cystic fibrosis.
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Worldwide rates of diagnosis and effective treatment for cystic fibrosis
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Metadata
- Authors
- Shteinberg, M., Haq, I. J., Polineni, D., & Davies, J. C.
- Affiliations
- Technion – Israel Institute of Technology (IL)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- University of Kansas Medical Center (US)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2021-06
- Volume
- 397
- Issue
- 10290
- Pages
- 2195-2211
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W4205612199
- Cited by
- 682
- References
- 195
- Citations by year
- 2026: 96 · 2025: 132 · 2024: 147 · 2023: 160 · 2022: 131 · 2021: 14
- FWCI
- 18.21
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- National Institute for Health and Care Research (NIHR201402, CL-2018-01-002)
- Cystic Fibrosis Trust (SRC 014)
- Academy of Medical Sciences (SGL024\1027)
- 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, CFTR mutations, CFTR function, mucus hydration, chronic lung infection, exocrine pancreatic insufficiency, male infertility, cystic fibrosis-related diabetes, cystic fibrosis liver disease, newborn screening, sweat test, CFTR modulator therapy, mucociliary clearance, disease pathophysiology, multidisciplinary care
- MeSH terms
- Bicarbonates, Chlorides, Cystic Fibrosis, Humans, Life Expectancy, Mucociliary Clearance, Mutation, Exocrine Pancreatic Insufficiency, Genetic Therapy, Cystic Fibrosis Transmembrane Conductance Regulator, Disease Management
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