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, J1 5
Ahmed, N1 5
Dupuis, A5
Martin, S5
Ellis, L5
Shea, J2
Hopper, I2
Corey, M1 5
Kortan, P1 3
Haber, G1 3
Ross, C3
Tzountzouris, J5
Steele, L1 5
Ray, PN1 5
Tsui, LC1 5
Durie, PR1 5
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
2011 Impact Factor: 5.069
2011 SCImago Journal Rankings: 0.328
DOIhttp://dx.doi.org/10.1007/s00439-005-0059-z
ISI Accession Number IDWOS:000234542900008
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 5.069
2011 SCImago Journal Rankings: 0.328
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
Author Affiliations
  1. University of Toronto, Faculty of Medicine
  2. Harvard Medical School
  3. Saint Michael's Hospital, Toronto
  4. Mayo Clinic in Jacksonville, Florida
  5. Hospital for Sick Children, Toronto