ArticleHuman genetics2005
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 112 citations in OpenAlex.
- Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.PloS one · 2022Pooled it
- Causal Evaluation of Acute Recurrent and Chronic Pancreatitis in Children: Consensus From the INSPPIRE Group.Journal of pediatric gastroenterology and nutrition · 2017Pooled it
- Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.The Journal of pediatrics · 2008Guideline
- Sweat chloride as a biomarker of CFTR activity: proof of concept and ivacaftor clinical trial data.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2014Trial
- Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.BMJ open · 2025Article
- Surgical considerations in cystic fibrosis: what every general surgeon needs to know.ANZ journal of surgery · 2022Review
- Article
- Turkish Gastroenterology Association, Pancreas Study Group, Chronic Pancreatitis Committee Consensus Report.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2020Article
- Chronic Pancreatitis: What the Clinician Wants to Know from MR Imaging.Magnetic resonance imaging clinics of North America · 2018Review
- Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.Molecular medicine (Cambridge, Mass.) · 2018Article
- Brushed nasal epithelial cells are a surrogate for bronchial epithelial CFTR studies.JCI insight · 2018Article
- Observational
- Stem cell-derived organoids to model gastrointestinal facets of cystic fibrosis.United European gastroenterology journal · 2017Review
- Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.Molecular medicine (Cambridge, Mass.) · 2016Article
- CFTR: A New Horizon in the Pathomechanism and Treatment of Pancreatitis.Reviews of physiology, biochemistry and pharmacology · 2016Review
- Prevalence of Pancreatitis in Female and Male Pediatric Patients in Eastern Kentucky in the United States.Journal of family medicine & community health · 2016Article
- Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2015Article
- Animal models of gastrointestinal and liver diseases. Animal models of cystic fibrosis: gastrointestinal, pancreatic, and hepatobiliary disease and pathophysiology.American journal of physiology. Gastrointestinal and liver physiology · 2015Review
- p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?Journal of human genetics · 2014Article
- Defining the accuracy of secretin pancreatic function testing in patients with suspected early chronic pancreatitis.The American journal of gastroenterology · 2013Article
Corrections and comments
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Authors and funding
18 authors at 4 institutions in 2 countries.
Funding
Abstract
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are associated with cystic fibrosis (CF)-related monosymptomatic conditions, including idiopathic pancreatitis. We evaluated prospectively enrolled patients who had idiopathic recurrent acute pancreatitis or idiopathic chronic pancreatitis, healthy controls, CF heterozygotes, and CF patients (pancreatic insufficient or sufficient) for evidence of CFTR gene mutations and abnormalities of ion transport by sweat chloride and nasal potential difference testing. DNA samples from anonymous blood donors were controls for genotyping. At least one CFTR mutation or variant was carried in 18 of 40 patients (45%) with idiopathic chronic pancreatitis and in 6 of 16 patients (38%) with idiopathic recurrent acute pancreatitis but in only 11 of the 50 controls (22%, P=0.005). Most identified mutations were rare and would not be identified in routine genetic screening. CFTR mutations were identified on both alleles in six patient (11%). Ion transport measurements in patients with pancreatitis showed a wide range of results, from the values in patients with classically diagnosed CF to those in the obligate heterozygotes and healthy controls. In general, ion channel measurements correlated with the number and severity of CFTR mutations. Twelve of 56 patients with pancreatitis (21%) fulfilled current clinical criteria for the diagnosis of CF, but CFTR genotyping alone confirmed the diagnosis in only two of these patients. We concluded that extensive genotyping and ion channel testing are useful to confirm or exclude the diagnosis of CF in the majority of patients with idiopathic pancreatitis.
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Registered trials
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