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Article: The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis

TitleThe cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
Authors
Issue Date2005
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 2005, v. 118 n. 3-4, p. 372-381 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/44395
ISSN
2014 Impact Factor: 4.824
2014 SCImago Journal Rankings: 2.261
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorBishop, MDen_HK
dc.contributor.authorFreedman, SDen_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorAhmed, Nen_HK
dc.contributor.authorDupuis, Aen_HK
dc.contributor.authorMartin, Sen_HK
dc.contributor.authorEllis, Len_HK
dc.contributor.authorShea, Jen_HK
dc.contributor.authorHopper, Ien_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorKortan, Pen_HK
dc.contributor.authorHaber, Gen_HK
dc.contributor.authorRoss, Cen_HK
dc.contributor.authorTzountzouris, Jen_HK
dc.contributor.authorSteele, Len_HK
dc.contributor.authorRay, PNen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorDurie, PRen_HK
dc.date.accessioned2007-09-12T03:52:42Z-
dc.date.available2007-09-12T03:52:42Z-
dc.date.issued2005en_HK
dc.identifier.citationHuman Genetics, 2005, v. 118 n. 3-4, p. 372-381en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44395-
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.en_HK
dc.languageengen_HK
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subject.meshIon channels - genetics - physiologyen_HK
dc.subject.meshCystic fibrosis - complications - diagnosis - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics - physiologyen_HK
dc.subject.meshPancreatitis - etiology - genetics - pathologyen_HK
dc.subject.meshCase-control studiesen_HK
dc.titleThe cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitisen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.doi10.1007/s00439-005-0059-zen_HK
dc.identifier.pmid16193325en_HK
dc.identifier.scopuseid_2-s2.0-30744444177en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-30744444177&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume118en_HK
dc.identifier.issue3-4en_HK
dc.identifier.spage372en_HK
dc.identifier.epage381en_HK
dc.identifier.isiWOS:000234542900008-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridBishop, MD=7201415929en_HK
dc.identifier.scopusauthoridFreedman, SD=35514314700en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridAhmed, N=36889251400en_HK
dc.identifier.scopusauthoridDupuis, A=7005589575en_HK
dc.identifier.scopusauthoridMartin, S=35611051800en_HK
dc.identifier.scopusauthoridEllis, L=7202635758en_HK
dc.identifier.scopusauthoridShea, J=7202997283en_HK
dc.identifier.scopusauthoridHopper, I=55392617200en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridKortan, P=35460198100en_HK
dc.identifier.scopusauthoridHaber, G=7005310608en_HK
dc.identifier.scopusauthoridRoss, C=7402593436en_HK
dc.identifier.scopusauthoridTzountzouris, J=27267991600en_HK
dc.identifier.scopusauthoridSteele, L=7102165492en_HK
dc.identifier.scopusauthoridRay, PN=7401892168en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridDurie, PR=7005360997en_HK

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