ArticlePloS one2012
Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 67 citations in OpenAlex.
- Intestinal current measurement detects age-dependent differences in CFTR function in rectal epithelium.Frontiers in pharmacology · 2025Article
- Article
- Preventable Hazards from in Vitro Fertilization - A Case Series of CF Patients from Bulgaria.Balkan journal of medical genetics : BJMG · 2023Article
- Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.Annals of the American Thoracic Society · 2023Article
- Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy.International journal of molecular sciences · 2022Article
- Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids.Journal of personalized medicine · 2021Article
- Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis.Journal of personalized medicine · 2021Review
- Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.Biochimica et biophysica acta. Molecular basis of disease · 2020Article
- In vitro 3D culture lung model from expanded primary cystic fibrosis human airway cells.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2020Article
- Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis.Frontiers in physiology · 2020Article
- Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.International journal of neonatal screening · 2018Article
- Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine.Frontiers in pharmacology · 2018Review
- Thirty Years of Sweat Chloride Testing at One Referral Center.Frontiers in pediatrics · 2017Article
- The third dimension: new developments in cell culture models for colorectal research.Cellular and molecular life sciences : CMLS · 2016Review
- Demographic, clinical, and laboratory parameters of cystic fibrosis during the last two decades: a comparative analysis.BMC pulmonary medicine · 2015Article
- Article
- Nasal potential difference in cystic fibrosis considering severe CFTR mutations.Disease markers · 2015Article
- Pulsed direct and constant direct currents in the pilocarpine iontophoresis sweat chloride test.BMC pulmonary medicine · 2014Article
- Intestinal current measurement versus nasal potential difference measurements for diagnosis of cystic fibrosis: a case-control study.BMC pulmonary medicine · 2014Article
- Rectal forceps biopsy procedure in cystic fibrosis: technical aspects and patients perspective for clinical trials feasibility.BMC gastroenterology · 2013Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCystic Fibrosis (CF) is caused by ∼1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl(-)) channel expressed in several epithelia. Clinical features are dominated by respiratory symptoms, but there is variable organ involvement thus causing diagnostic dilemmas, especially for non-classic cases. METHODOLOGY/PRINCIPAL
findingsTo further establish measurement of CFTR function as a sensitive and robust biomarker for diagnosis and prognosis of CF, we herein assessed cholinergic and cAMP-CFTR-mediated Cl(-) secretion in 524 freshly excised rectal biopsies from 118 individuals, including patients with confirmed CF clinical diagnosis (n=51), individuals with clinical CF suspicion (n=49) and age-matched non-CF controls (n=18). Conclusive measurements were obtained for 96% of cases. Patients with "Classic CF", presenting earlier onset of symptoms, pancreatic insufficiency, severe lung disease and low Shwachman-Kulczycki scores were found to lack CFTR-mediated Cl(-) secretion (<5%). Individuals with milder CF disease presented residual CFTR-mediated Cl(-) secretion (10-57%) and non-CF controls show CFTR-mediated Cl(-) secretion ≥ 30-35% and data evidenced good correlations with various clinical parameters. Finally, comparison of these values with those in "CF suspicion" individuals allowed to confirm CF in 16/49 individuals (33%) and exclude it in 28/49 (57%). Statistical discriminant analyses showed that colonic measurements of CFTR-mediated Cl(-) secretion are the best discriminator among Classic/Non-Classic CF and non-CF groups. CONCLUSIONS/SIGNIFICANCE: Determination of CFTR-mediated Cl(-) secretion in rectal biopsies is demonstrated here to be a sensitive, reproducible and robust predictive biomarker for the diagnosis and prognosis of CF. The method also has very high potential for (pre-)clinical trials of CFTR-modulator therapies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.