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Article: Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis

TitleGenotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
Authors
Issue Date2002
PublisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/gastro
Citation
Gastroenterology, 2002, v. 123 n. 6, p. 1857-1864 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/44375
ISSN
2023 Impact Factor: 25.7
2023 SCImago Journal Rankings: 7.362
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorDurno, Cen_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTullis, Een_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorDurie, Pen_HK
dc.date.accessioned2007-09-12T03:52:20Z-
dc.date.available2007-09-12T03:52:20Z-
dc.date.issued2002en_HK
dc.identifier.citationGastroenterology, 2002, v. 123 n. 6, p. 1857-1864en_HK
dc.identifier.issn0016-5085en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44375-
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.en_HK
dc.languageengen_HK
dc.publisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/gastroen_HK
dc.relation.ispartofGastroenterologyen_HK
dc.subject.meshMedical sciences - gastroenterologyen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - geneticsen_HK
dc.subject.meshPancreatitis - diagnosis - etiology - genetics - physiopathologyen_HK
dc.subject.meshPhenotypeen_HK
dc.subject.meshPrevalenceen_HK
dc.titleGenotype and phenotype correlations in patients with cystic fibrosis and pancreatitisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0016-5085&volume=123&issue=6&spage=1857&epage=1864&date=2002&atitle=Genotype+and+phenotype+correlations+in+patients+with+cystic+fibrosis+and+pancreatitisen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1053/gast.2002.37042en_HK
dc.identifier.pmid12454843-
dc.identifier.scopuseid_2-s2.0-0036892322en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036892322&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume123en_HK
dc.identifier.issue6en_HK
dc.identifier.spage1857en_HK
dc.identifier.epage1864en_HK
dc.identifier.isiWOS:000179545300017-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridDurno, C=6603654090en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTullis, E=6602749234en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK
dc.identifier.issnl0016-5085-

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