ArticleWorld journal of pediatrics : WJP2017
Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.
Article in World journal of pediatrics : WJP, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.Diagnostics (Basel, Switzerland) · 2024Review
- Soft, skin-interfaced sweat stickers for cystic fibrosis diagnosis and management.Science translational medicine · 2021Article
- Dehydrated patient without clinically evident cause: A case report.World journal of clinical cases · 2020Article
- Exercise and Cystic Fibrosis.Advances in experimental medicine and biology · 2020Review
- Cystic fibrosis-related diabetes: optimizing care with a multidisciplinary approach.Diabetes, metabolic syndrome and obesity : targets and therapy · 2019Article
- Personalized or Precision Medicine? The Example of Cystic Fibrosis.Frontiers in pharmacology · 2017Review
- The Value Proposition for Pathologists: A Population Health Approach.Academic pathologyArticle
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation identification is being used with increased frequency to aid in the diagnosis of cystic fibrosis (CF) in those suspected with CF. Aim of this study was to identify diagnostic outcomes when CFTR mutational analysis was used in CF diagnosis. CFTR mutational analysis results were also compared with sweat chloride results.
methodsThis study was done on all patients at our institution who had CFTR mutation analysis over a sevenyear period since August 2006.
resultsA total of 315 patients underwent CFTR mutational analysis. Fifty-one (16.2%) patients had two mutations identified. Among them 32 had positive sweat chloride levels (≥60 mmol/L), while seven had borderline sweat chloride levels (40-59 mmol/L). An additional 70 patients (22.3%) had only one mutation identified. Among them eight had positive sweat chloride levels, and 17 had borderline sweat chloride levels. Fifty-five patients (17.5%) without CFTR mutations had either borderline (n=45) or positive (n=10) sweat chloride results. Three patients with a CF phenotype had negative CFTR analysis but elevated sweat chloride levels. In eighty-three patients (26.4%) CFTR mutational analysis was done without corresponding sweat chloride testing.
conclusionsAlthough CFTR mutation analysis has improved the diagnostic capability for CF, its use either as the first step or the only test to diagnose CFTR dysfunction should be discouraged and CF diagnostic guidelines need to be followed.
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