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Article: Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
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TitleGenotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
 
AuthorsDurno, C1
Corey, M2 1 1
Zielenski, J2
Tullis, E2 1 1
Tsui, LC2 1
Durie, P2 1 2
 
Issue Date2002
 
PublisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/gastro
 
CitationGastroenterology, 2002, v. 123 n. 6, p. 1857-1864 [How to Cite?]
DOI: http://dx.doi.org/10.1053/gast.2002.37042
 
AbstractBackground & Aims: Pancreatitis is known to occur in some patients with cystic fibrosis (CF), but the prevalence, natural history, and genotypic basis are unclear. We examined a well-defined cohort of patients with CF to answer these questions. Methods: Patients with CF were identified from a computerized database (1966-1996). Chart audit identified all patients with CF and pancreatitis. Results: Among 1075 patients with CF, 937 (87%) were pancreatic insufficient at diagnosis, 28 (3%) were pancreatic sufficient but developed pancreatic insufficiency after diagnosis, and 110 (10%) have remained pancreatic sufficient. No patients with pancreatic insufficiency developed pancreatitis. Nineteen patients (17.3%) with pancreatic sufficiency experienced one or more attacks of pancreatitis. The mean age at diagnosis of pancreatitis was 22.7 ± 10.3 years (range, 10-35 years), and pancreatitis was recognized before the diagnosis of CF in 6 patients (32%). The diagnosis of CF in pancreatic-sufficient patients, with and without pancreatitis, was established at a significantly older age than in those with pancreatic insufficiency (P < 0.0001). Genotyped patients with pancreatic insufficiency carried 2 severe mutant alleles. All genotyped patients with pancreatic sufficiency and pancreatitis carried at least one mild mutation. No specific genotype was predictive of pancreatitis. Conclusions: Patients with CF with pancreatic sufficiency carry at least one mild mutant allele and are at a significant risk of developing pancreatitis. Symptoms of pancreatitis may precede the diagnosis of CF. Pancreatitis is associated with an otherwise mild CF phenotype.
 
ISSN0016-5085
2012 Impact Factor: 12.821
2012 SCImago Journal Rankings: 3.649
 
DOIhttp://dx.doi.org/10.1053/gast.2002.37042
 
ISI Accession Number IDWOS:000179545300017
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorDurno, C
 
dc.contributor.authorCorey, M
 
dc.contributor.authorZielenski, J
 
dc.contributor.authorTullis, E
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorDurie, P
 
dc.date.accessioned2007-09-12T03:52:20Z
 
dc.date.available2007-09-12T03:52:20Z
 
dc.date.issued2002
 
dc.description.abstractBackground & Aims: Pancreatitis is known to occur in some patients with cystic fibrosis (CF), but the prevalence, natural history, and genotypic basis are unclear. We examined a well-defined cohort of patients with CF to answer these questions. Methods: Patients with CF were identified from a computerized database (1966-1996). Chart audit identified all patients with CF and pancreatitis. Results: Among 1075 patients with CF, 937 (87%) were pancreatic insufficient at diagnosis, 28 (3%) were pancreatic sufficient but developed pancreatic insufficiency after diagnosis, and 110 (10%) have remained pancreatic sufficient. No patients with pancreatic insufficiency developed pancreatitis. Nineteen patients (17.3%) with pancreatic sufficiency experienced one or more attacks of pancreatitis. The mean age at diagnosis of pancreatitis was 22.7 ± 10.3 years (range, 10-35 years), and pancreatitis was recognized before the diagnosis of CF in 6 patients (32%). The diagnosis of CF in pancreatic-sufficient patients, with and without pancreatitis, was established at a significantly older age than in those with pancreatic insufficiency (P < 0.0001). Genotyped patients with pancreatic insufficiency carried 2 severe mutant alleles. All genotyped patients with pancreatic sufficiency and pancreatitis carried at least one mild mutation. No specific genotype was predictive of pancreatitis. Conclusions: Patients with CF with pancreatic sufficiency carry at least one mild mutant allele and are at a significant risk of developing pancreatitis. Symptoms of pancreatitis may precede the diagnosis of CF. Pancreatitis is associated with an otherwise mild CF phenotype.
 
dc.description.natureabstract
 
dc.identifier.citationGastroenterology, 2002, v. 123 n. 6, p. 1857-1864 [How to Cite?]
DOI: http://dx.doi.org/10.1053/gast.2002.37042
 
dc.identifier.doihttp://dx.doi.org/10.1053/gast.2002.37042
 
dc.identifier.epage1864
 
dc.identifier.isiWOS:000179545300017
 
dc.identifier.issn0016-5085
2012 Impact Factor: 12.821
2012 SCImago Journal Rankings: 3.649
 
dc.identifier.issue6
 
dc.identifier.openurl
 
dc.identifier.pmid12454843
 
dc.identifier.scopuseid_2-s2.0-0036892322
 
dc.identifier.spage1857
 
dc.identifier.urihttp://hdl.handle.net/10722/44375
 
dc.identifier.volume123
 
dc.languageeng
 
dc.publisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/gastro
 
dc.publisher.placeUnited States
 
dc.relation.ispartofGastroenterology
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshMedical sciences - gastroenterology
 
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics
 
dc.subject.meshPancreatitis - diagnosis - etiology - genetics - physiopathology
 
dc.subject.meshPhenotype
 
dc.subject.meshPrevalence
 
dc.titleGenotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
 
dc.typeArticle
 
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<description.abstract>Background &amp; Aims: Pancreatitis is known to occur in some patients with cystic fibrosis (CF), but the prevalence, natural history, and genotypic basis are unclear. We examined a well-defined cohort of patients with CF to answer these questions. Methods: Patients with CF were identified from a computerized database (1966-1996). Chart audit identified all patients with CF and pancreatitis. Results: Among 1075 patients with CF, 937 (87%) were pancreatic insufficient at diagnosis, 28 (3%) were pancreatic sufficient but developed pancreatic insufficiency after diagnosis, and 110 (10%) have remained pancreatic sufficient. No patients with pancreatic insufficiency developed pancreatitis. Nineteen patients (17.3%) with pancreatic sufficiency experienced one or more attacks of pancreatitis. The mean age at diagnosis of pancreatitis was 22.7 &#177; 10.3 years (range, 10-35 years), and pancreatitis was recognized before the diagnosis of CF in 6 patients (32%). The diagnosis of CF in pancreatic-sufficient patients, with and without pancreatitis, was established at a significantly older age than in those with pancreatic insufficiency (P &lt; 0.0001). Genotyped patients with pancreatic insufficiency carried 2 severe mutant alleles. All genotyped patients with pancreatic sufficiency and pancreatitis carried at least one mild mutation. No specific genotype was predictive of pancreatitis. Conclusions: Patients with CF with pancreatic sufficiency carry at least one mild mutant allele and are at a significant risk of developing pancreatitis. Symptoms of pancreatitis may precede the diagnosis of CF. Pancreatitis is associated with an otherwise mild CF phenotype.</description.abstract>
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Author Affiliations
  1. University of Toronto
  2. Hospital for Sick Children University of Toronto