Correlation between phenotype and genotype in a group of patients with cystic fibrosis

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dc.contributor.authorNavarro, H
dc.contributor.authorKolbach, M
dc.contributor.authorRepetto, G
dc.contributor.authorGuirales, E
dc.contributor.authorHarris, P
dc.contributor.authorForadori, A
dc.contributor.authorPoggi, H
dc.contributor.authorSanchez, I
dc.date.accessioned2025-04-15T10:30:07Z
dc.date.available2025-04-15T10:30:07Z
dc.date.issued2002
dc.description.abstractBackground: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Trains membrane Regulator (CFTR). The DeltaF508 mutation is present in 60% of alleles studied worldwide. Aim: To report 25 patients with cystic fibrosis in whom a genetic study was done. Material and methods: Twenty five patients (14 men, aged between 18 months and 25 years) with a diagnosis of cystic fibrosis based on clinical features plus two abnormal sweat tests are reported. The genetic study considered the 20 most common mutations in cystic fibrosis and was done in genomic DNA of peripheral lymphocytes, by polymerase chain reaction. Results: A mutation was found in 75% of analyzed alleles. DeltaF508 was present in 50% of cases (DeltaF508/DeltaF508 in 8 and DeltaF508/other in 11). When DeltaF508 was present, pancreatic insufficiency was always a feature and nutritional status was worse. Respiratory involvement was variable, both for homozygous and heterozygous cases. Other severe mutations such as W1282X and G542X were related to clinical manifestations similar to those found in DeltaF508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium dens and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutation, but milder respiratory symptoms and lesser nutritional compromise at the time of assessment. Conclusions: Most patients studied had a severe cystic fibrosis mutation, which was associated with more severe respiratory, pancreatic and nutritional involvement. The early diagnosis of the disease, which would allow to improve the prognosis and the quality of life, must be emphasized.
dc.format.extent7 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1097/00063198-199511000-00004 
dc.identifier.eissn0717-6163
dc.identifier.issn0034-9887
dc.identifier.pubmedidMEDLINE:12143267
dc.identifier.urihttps://doi.org/10.1097/00063198-199511000-00004 
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/103247
dc.identifier.wosidWOS:000176594400001
dc.information.autorucEscuela de Medicina; Kolbach Rengifo, Marianne Helene; S/I; 3611
dc.information.autorucEscuela de Medicina; Repetto Lisboa, Maria Gabriela; S/I; 73879
dc.information.autorucEscuela de Medicina; Guiraldes Camerati, Ernesto Rafael Ramon; 0000-0001-5535-8155; 98921
dc.information.autorucEscuela de Medicina; Harris Diez, Paul Richard; 0000-0001-6226-0957; 80706
dc.information.autorucFacultad de Ciencias Biológicas; Foradori Curtarelli, Arnaldo; S/I; 47695
dc.information.autorucEscuela de Medicina; Poggi Mayorga, Helena Loreto; 0000-0002-5046-639X; 115999
dc.information.autorucEscuela de Medicina; Sanchez Diaz, Ignacio; S/I; 52710
dc.issue.numero5
dc.language.isoes
dc.nota.accesoSin adjunto
dc.pagina.final481
dc.pagina.inicio475
dc.relation.ispartof52nd Annual Meeting of the Society-for-Psychophysiological-Research, SEP 19-23, 2012, New Orleans, LA
dc.revistaREVISTA MEDICA DE CHILE
dc.rightsregistro bibliográfico
dc.subjectcystic fibrosis
dc.subjectcystic fibrosis transmembrane conductance regulator
dc.subjectgenetics medical
dc.subjectGENE
dc.subjectDIAGNOSIS
dc.subjectSEVERITY
dc.subjectMUTATION
dc.subjectINFANTS
dc.subjectDISEASE
dc.subject.ddc100
dc.subject.deweyFilosofíaes_ES
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleCorrelation between phenotype and genotype in a group of patients with cystic fibrosis
dc.typeartículo
dc.volumen130
sipa.codpersvinculados3611
sipa.codpersvinculados73879
sipa.codpersvinculados98921
sipa.codpersvinculados80706
sipa.codpersvinculados47695
sipa.codpersvinculados115999
sipa.codpersvinculados52710
sipa.indexWOS
sipa.indexPubmed
sipa.trazabilidadCarga WOS-SCOPUS;15-04-2025
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