Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (664 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the LUNG, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction; chronic respiratory infections; pancreatic insufficiency; maldigestion; salt depletion; and heat prostration.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Fibrosis, Cystic; Mucoviscidosis; Pancreatic Cystic Fibrosis; Cystic Fibrosis, Pancreatic; Cystic Fibrosis of Pancreas; Fibrocystic Disease of Pancreas; Pancreas Fibrocystic Disease; Pancreas Fibrocystic Diseases.
Where it fits in the MeSH classification
- Broader topics
- Pancreatic Diseases; Lung Diseases; Genetic Diseases, Inborn; Infant, Newborn, Diseases
- See also
- Mice, Inbred CFTR; Cystic Fibrosis Transmembrane Conductance Regulator
Related concepts
- Exocrine Glands
- Cystic Fibrosis Transmembrane Conductance Regulator
- Pancreas
- Biliary System
- Sweat Glands
- Airway Obstruction
- Respiratory Infections
- Pancreatic Insufficiency
- Heat Prostration
Research landscape
PubMed indexes 43,335 records tagged with the MeSH heading “Cystic Fibrosis” (counts retrieved 2026-10-29). 7,956 of them (18.4%) were published from 2020 onward, and the busiest period so far is through 1999 with 15,641 records.
Reviews account for 6,955 records (16.0%) and meta-analyses for 271. Randomized controlled trials number 1,117 (2.6%) as a share of all records on the topic.
Show the data
| Period | Records |
|---|---|
| through 1999 | 15,641 |
| 2000-2009 | 8,418 |
| 2010-2019 | 11,320 |
| 2020 onward | 7,956 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 6,955 | 16.0% |
| Meta-analyses | 271 | 0.6% |
| Randomized controlled trials | 1,117 | 2.6% |
Method: PubMed query "Cystic Fibrosis"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| CFTR modulator therapy drives microbiome restructuring through improved host physiology in cystic fibrosis: the IMMProveCF phase IV trial | 2025 | Research article Design not recorded in structured metadata | 15 | cc by PMID 41253756 · DOI · PMC12627475 |
| Cystic fibrosis risk variants confer protection against inflammatory bowel disease | 2026 | Research article Design not recorded in structured metadata | 7 | cc by PMID 41330381 · DOI · PMC12903406 |
| Generation of a pseudo-timeline describing progressive human exocrine and endocrine pancreatic pathology in cystic fibrosis through novel semi-quantitative scoring and AI-driven quantitative image analysis | 2026 | Research article Design not recorded in structured metadata | 5 | cc by PMID 41076452 · DOI · PMC12686001 |
CFTR modulator therapy drives microbiome restructuring through improved host physiology in cystic fibrosis: the IMMProveCF phase IV trial [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, leading to impaired CFTR function, mucus accumulation, chronic infections, and inflammation.
- Closing excerpt
- They offer insights into host-microbiome dynamics under therapeutic modulation and emphasize the need for confounder-aware models in complex clinical populations.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (202 words)
Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, leading to impaired CFTR function, mucus accumulation, chronic infections, and inflammation. The triple combination elexacaftor/tezacaftor/ivacaftor (ETI) has transformed CF treatment by restoring CFTR function. However, how ETI-induced physiological improvements affect long-standing dysbiosis and pathogen colonization across microbiome habitats remains poorly understood. In this prospective longitudinal study (DRKS00023862), we analyzed sputum, throat, and stool microbiomes of pwCF (n = 35) before and after ETI initiation, alongside healthy controls (n = 49). The primary endpoint was longitudinal change in diversity, species richness, and microbial composition in the respiratory and intestinal microbiome, profiled by 16S rRNA gene sequencing. Secondary endpoints included changes in lung function, systemic and gastrointestinal inflammation. We show how improved CFTR function and direct antibacterial effects of ETI create a niche disadvantage for Staphylococcus in the sputum microbiome. Respiratory microbiome shifts were immediate, while gut changes emerged gradually. Escherichia abundance in stool, initially elevated in pwCF, decreased post-ETI and correlated with lower fecal calprotectin. These findings demonstrate that ETI can partially reverse CF-associated dysbiosis through improved host physiology. They offer insights into host-microbiome dynamics under therapeutic modulation and emphasize the need for confounder-aware models in complex clinical populations.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41253756 · DOI · PMC12627475
Cystic fibrosis risk variants confer protection against inflammatory bowel disease [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Genetic mutations that yield a defective cystic fibrosis (CF) transmembrane regulator (CFTR) protein cause CF, a life-limiting autosomal-recessive Mendelian disorder.
- Closing excerpt
- Our findings highlight the critical and unmet need for effective variant prioritization in gene-based burden tests.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (147 words)
Genetic mutations that yield a defective cystic fibrosis (CF) transmembrane regulator (CFTR) protein cause CF, a life-limiting autosomal-recessive Mendelian disorder. A protective role of CFTR loss-of-function mutations in inflammatory bowel disease (IBD) has been suggested, but its evidence has been inconclusive and contradictory. Here, leveraging a large IBD exome sequencing dataset comprising 38,558 cases and 66,945 controls of European ancestry in the discovery stage and a combined total of 42,475 cases and 192,050 controls across diverse ancestry groups in the replication stage, we established a protective role of CF-risk variants against IBD based on the association test of CFTR deltaF508 (p = 8.96E-11) and the gene-based burden test of CF-risk variants (p = 3.9E-07). Furthermore, we assessed variant prioritization methods, including AlphaMissense, using clinically annotated CF-risk variants as the gold standard. Our findings highlight the critical and unmet need for effective variant prioritization in gene-based burden tests.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41330381 · DOI · PMC12903406
Generation of a pseudo-timeline describing progressive human exocrine and endocrine pancreatic pathology in cystic fibrosis through novel semi-quantitative scoring and AI-driven quantitative image analysis [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Aims/hypothesisCystic fibrosis (CF) is associated with pancreatic exocrine insufficiency (PEI) early in life and diabetes in at least 50% of adults.
- Closing excerpt
- Increasing islet disorganisation and intra-islet collagen deposition in older donors temporo-spatially implicates fibrosis in and around the islet as being aetiologically important in the development of CF-related diabetes.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (315 words)
Aims/hypothesisCystic fibrosis (CF) is associated with pancreatic exocrine insufficiency (PEI) early in life and diabetes in at least 50% of adults. Underlying CF-related changes within the pancreas remain incompletely understood due to scarcity of available human tissue, protracted disease course and absence of robust and reproducible analytical approaches. This study aimed to develop and apply a systematic analysis cross-sectionally to CF pancreatic tissue samples to construct a timeline of exocrine and endocrine changes with progressive disease.MethodsThrough a pathologist-led iterative approach, a light-microscopy semi-quantitative scoring system and artificial-intelligence-driven quantitative image analysis for individual pancreatic variables were developed. These were applied to human pancreatic tissue from 29 CF and 58 control donors without pancreatic disease.ResultsRapid loss of acinar tissue with virtually complete absence and replacement by adipocytes by the age of 7 years was confirmed. Ductal blockage by thickened secretions was associated with increasing ductal dilatation accompanied by periductal fibrosis, followed by ductal loss with involution of associated fibrosis in parallel with increasing adipocyte proportional area. Remaining ducts were relatively small, surrounded by residual fibrosis. Islets became increasingly clustered, initially surrounded by pancreatic stellate cells and fibrosis, then disorganised by interposing fibrotic tissue between endocrine cell regions and surrounded by residual collagen stranding in a 'lipotic' pancreas. Overall islet mass was not reduced but proportional beta cell area was reduced from birth without further loss over the course of progressive disease.Conclusions/interpretationThe natural history of pancreatic CF progresses rapidly from duct blockage and dilatation associated with periductal fibrosis to global fat replacement in keeping with early onset of PEI in the majority of affected individuals. Beta cell proportional area is reduced at birth before clinical evidence of pancreatic endocrine dysfunction without significant further loss of islet/beta cell mass with age. Increasing islet disorganisation and intra-islet collagen deposition in older donors temporo-spatially implicates fibrosis in and around the islet as being aetiologically important in the development of CF-related diabetes.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41076452 · DOI · PMC12686001
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Risk of gastrointestinal cancers in patients with cystic fibrosis: a systematic review and meta-analysis [4]
- Research article Prevalence of Aspergillus sensitization and allergic bronchopulmonary aspergillosis in cystic fibrosis: systematic review and meta-analysis [5]
- Research article The prevalence of osteoporosis, osteopenia, and fractures among adults with cystic fibrosis: a systematic literature review with meta-analysis [6]
- Research article Macrolide antibiotics for cystic fibrosis [7]
- Research article Physical exercise training for cystic fibrosis [8]
- Research article Nebulised hypertonic saline for cystic fibrosis [9]
References
- Knoll RL, Brauny MM, Robert E, Cloos L, Waser L, Hilbert K, et al.. CFTR modulator therapy drives microbiome restructuring through improved host physiology in cystic fibrosis: the IMMProveCF phase IV trial. . 2025. PMID 41253756 · DOI · PMC12627475
- Yu M, Zhang Q, Yuan K, Sazonovs A, Stevens CR, Fachal L, et al.. Cystic fibrosis risk variants confer protection against inflammatory bowel disease. . 2026. PMID 41330381 · DOI · PMC12903406
- Al-Selwi Y, Tiniakos D, Richardson SJ, Flaxman CS, Russell L, Coulthard R, et al.. Generation of a pseudo-timeline describing progressive human exocrine and endocrine pancreatic pathology in cystic fibrosis through novel semi-quantitative scoring and AI-driven quantitative image analysis. . 2026. PMID 41076452 · DOI · PMC12686001
- Yamada A, Komaki Y, Komaki F, Micic D, Zullow S, Sakuraba A. Risk of gastrointestinal cancers in patients with cystic fibrosis: a systematic review and meta-analysis. Lancet Oncol. 2018. PMID 29706374 · DOI
- Maturu VN, Agarwal R. Prevalence of Aspergillus sensitization and allergic bronchopulmonary aspergillosis in cystic fibrosis: systematic review and meta-analysis. Clin Exp Allergy. 2015. PMID 26177981 · DOI
- Paccou J, Zeboulon N, Combescure C, Gossec L, Cortet B. The prevalence of osteoporosis, osteopenia, and fractures among adults with cystic fibrosis: a systematic literature review with meta-analysis. Calcif Tissue Int. 2010. PMID 19949942 · DOI
- Southern KW, Barker PM, Solis-Moya A, Patel L. Macrolide antibiotics for cystic fibrosis. Cochrane Database Syst Rev. 2012. PMID 23152214 · DOI · PMC7098459
- Radtke T, Nevitt SJ, Hebestreit H, Kriemler S. Physical exercise training for cystic fibrosis. Cochrane Database Syst Rev. 2017. PMID 29090734 · DOI · PMC6485991
- Wark P, McDonald VM. Nebulised hypertonic saline for cystic fibrosis. Cochrane Database Syst Rev. 2009. PMID 19370568 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.