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Article: The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
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TitleThe cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
 
AuthorsBishop, MD2 4
Freedman, SD2
Zielenski, J5 1
Ahmed, N5 1
Dupuis, A5
Martin, S5
Ellis, L5
Shea, J2
Hopper, I2
Corey, M5 1
Kortan, P1 3
Haber, G1 3
Ross, C3
Tzountzouris, J5
Steele, L5 1
Ray, PN5 1
Tsui, LC5 1
Durie, PR5 1
 
Issue Date2005
 
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
 
CitationHuman Genetics, 2005, v. 118 n. 3-4, p. 372-381 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s00439-005-0059-z
 
AbstractCystic 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. © Springer-Verlag 2005.
 
ISSN0340-6717
2013 Impact Factor: 4.522
 
DOIhttp://dx.doi.org/10.1007/s00439-005-0059-z
 
ISI Accession Number IDWOS:000234542900008
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorBishop, MD
 
dc.contributor.authorFreedman, SD
 
dc.contributor.authorZielenski, J
 
dc.contributor.authorAhmed, N
 
dc.contributor.authorDupuis, A
 
dc.contributor.authorMartin, S
 
dc.contributor.authorEllis, L
 
dc.contributor.authorShea, J
 
dc.contributor.authorHopper, I
 
dc.contributor.authorCorey, M
 
dc.contributor.authorKortan, P
 
dc.contributor.authorHaber, G
 
dc.contributor.authorRoss, C
 
dc.contributor.authorTzountzouris, J
 
dc.contributor.authorSteele, L
 
dc.contributor.authorRay, PN
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorDurie, PR
 
dc.date.accessioned2007-09-12T03:52:42Z
 
dc.date.available2007-09-12T03:52:42Z
 
dc.date.issued2005
 
dc.description.abstractCystic 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. © Springer-Verlag 2005.
 
dc.description.natureabstract
 
dc.identifier.citationHuman Genetics, 2005, v. 118 n. 3-4, p. 372-381 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s00439-005-0059-z
 
dc.identifier.doihttp://dx.doi.org/10.1007/s00439-005-0059-z
 
dc.identifier.epage381
 
dc.identifier.isiWOS:000234542900008
 
dc.identifier.issn0340-6717
2013 Impact Factor: 4.522
 
dc.identifier.issue3-4
 
dc.identifier.pmid16193325
 
dc.identifier.scopuseid_2-s2.0-30744444177
 
dc.identifier.spage372
 
dc.identifier.urihttp://hdl.handle.net/10722/44395
 
dc.identifier.volume118
 
dc.languageeng
 
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
 
dc.publisher.placeGermany
 
dc.relation.ispartofHuman Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.rightsThe original publication is available at www.springerlink.com
 
dc.subject.meshIon channels - genetics - physiology
 
dc.subject.meshCystic fibrosis - complications - diagnosis - genetics
 
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics - physiology
 
dc.subject.meshPancreatitis - etiology - genetics - pathology
 
dc.subject.meshCase-control studies
 
dc.titleThe cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
 
dc.typeArticle
 
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Author Affiliations
  1. University of Toronto Faculty of Medicine
  2. Harvard Medical School
  3. Saint Michael's Hospital University of Toronto
  4. Mayo Clinic in Jacksonville, Florida
  5. Hospital for Sick Children University of Toronto