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Article: Uncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurements

TitleUncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurements
Authors
Issue Date1998
PublisherMosby, Inc. The Journal's web site is located at http://www.elsevier.com/locate/jpeds
Citation
Journal Of Pediatrics, 1998, v. 132 n. 4, p. 596-599 How to Cite?
AbstractThe diagnosis of cystic fibrosis (CF) is not always certain, despite extensive clinical evaluation, multiple sweat chloride tests, and genotype analysis. We hypothesized that nasal transepithelial potential difference measurements have a useful role in this situation. In 11 patients without an established diagnosis of CF, results of simultaneous nasal potential difference (PD) and sweat chloride measurements were compared with those from control subjects, obligate CF heterozygotes, and patients with a confirmed diagnosis of CF. Two patients conformed to the PD profile for CF patients, whereas nine had values corresponding to those of the healthy control subjects. Subsequently the 5-thymidine (IVS8-5T) CF gene variant was identified in the two patients with abnormal PD measurements.
Persistent Identifierhttp://hdl.handle.net/10722/44334
ISSN
2023 Impact Factor: 3.9
2023 SCImago Journal Rankings: 1.043
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorWilson, DCen_HK
dc.contributor.authorEllis, Len_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorIp, WFen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorTullis, Een_HK
dc.contributor.authorKnowles, MRen_HK
dc.contributor.authorDurie, PRen_HK
dc.date.accessioned2007-09-12T03:51:36Z-
dc.date.available2007-09-12T03:51:36Z-
dc.date.issued1998en_HK
dc.identifier.citationJournal Of Pediatrics, 1998, v. 132 n. 4, p. 596-599en_HK
dc.identifier.issn0022-3476en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44334-
dc.description.abstractThe diagnosis of cystic fibrosis (CF) is not always certain, despite extensive clinical evaluation, multiple sweat chloride tests, and genotype analysis. We hypothesized that nasal transepithelial potential difference measurements have a useful role in this situation. In 11 patients without an established diagnosis of CF, results of simultaneous nasal potential difference (PD) and sweat chloride measurements were compared with those from control subjects, obligate CF heterozygotes, and patients with a confirmed diagnosis of CF. Two patients conformed to the PD profile for CF patients, whereas nine had values corresponding to those of the healthy control subjects. Subsequently the 5-thymidine (IVS8-5T) CF gene variant was identified in the two patients with abnormal PD measurements.en_HK
dc.languageengen_HK
dc.publisherMosby, Inc. The Journal's web site is located at http://www.elsevier.com/locate/jpedsen_HK
dc.relation.ispartofJournal of Pediatricsen_HK
dc.subject.meshCystic Fibrosis - diagnosis - genetics - physiopathologyen_HK
dc.subject.meshNasal Mucosa - physiopathologyen_HK
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - geneticsen_HK
dc.subject.meshExocrine Pancreatic Insufficiency - diagnosisen_HK
dc.subject.meshMembrane Potentials - physiologyen_HK
dc.titleUncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurementsen_HK
dc.typeArticleen_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.doi10.1016/S0022-3476(98)70345-2en_HK
dc.identifier.pmid9580755-
dc.identifier.scopuseid_2-s2.0-0031954680en_HK
dc.identifier.volume132en_HK
dc.identifier.issue4en_HK
dc.identifier.spage596en_HK
dc.identifier.epage599en_HK
dc.identifier.isiWOS:000073322400009-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridWilson, DC=9035958000en_HK
dc.identifier.scopusauthoridEllis, L=7202635758en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridIp, WF=7102820049en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridTullis, E=6602749234en_HK
dc.identifier.scopusauthoridKnowles, MR=7101801977en_HK
dc.identifier.scopusauthoridDurie, PR=7005360997en_HK
dc.identifier.issnl0022-3476-

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