Correlación genotipo-fenotipo de un grupo de pacientes con fibrosis quística

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dc.catalogadorgrr
dc.contributor.authorNavarro M., Héctor
dc.contributor.authorKolbach Rengifo, Marianne Helene
dc.contributor.authorRepetto Lisboa, María Gabriela
dc.contributor.authorGuiraldes Cameratti, Ernesto
dc.contributor.authorHarris D., Paul R.
dc.contributor.authorForadori, Arnaldo
dc.contributor.authorPoggi, Helena
dc.contributor.authorSánchez Díaz, Ignacio
dc.date.accessioned2021-08-10T21:18:21Z
dc.date.available2021-08-10T21:18:21Z
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 Transmembrane Regulator (CFTR). The delta F508 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. delta F508 was present in 50% of cases (delta F508/delta F508 in 8 and delta F508/other in 11). When delta F508 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 W128X and G542X were related to clinical manifestations similar to those found in delta F508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium ileus and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutations, 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.fuente.origenORCID-ene24
dc.identifier.eissn0717-6163
dc.identifier.issn0034-9887
dc.identifier.pubmedid12143267
dc.identifier.scieloidS0034-98872002000500001
dc.identifier.scopusid2-s2.0-0346678536
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/61759
dc.identifier.wosidWOS:000176594400001
dc.information.autorucEscuela de medicina ; Kolbach Rengifo, Marianne Helene ; S/I ; 3611
dc.information.autorucEscuela de medicina ; Repetto Lisboa, María Gabriela ; 0000-0003-0120-5684 ; 73879
dc.information.autorucEscuela de medicina ; Guiraldes Camerati, Ernesto Rafael ; 0000-0001-5535-8155 ; 98921
dc.information.autorucEscuela de medicina ; Harris Diez, Paul Richard ; S/I ; 80706
dc.information.autorucEscuela de medicina ; Foradori, Arnaldo ; S/I ; 47695
dc.information.autorucEscuela de medicina ; Poggi, Helena ; 0000-0002-5046-639X ; 115999
dc.information.autorucEscuela de medicina ; Sánchez Díaz, Ignacio ; S/I ; 52710
dc.issue.numero 5
dc.language.isoes
dc.nota.accesoContenido completo
dc.pagina.final481
dc.pagina.inicio475
dc.publisherSoc. Médica Santiago
dc.revistaRevista Médica de Chilees_ES
dc.rightsacceso abierto
dc.rights.licenseAtribución 4.0 Internacional (CC BY 4.0)
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/deed.es
dc.subjectCystic fibrosis
dc.subjectCystic fibrosis transmembrane conductance regulator
dc.subjectGenetics, medical
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleCorrelación genotipo-fenotipo de un grupo de pacientes con fibrosis quística
dc.title.alternativeCorrelation between phenotype and genotype in a group of patients with cystic fibrosis
dc.typeartículo
dc.volumen 130
sipa.codpersvinculados3611
sipa.codpersvinculados73879
sipa.codpersvinculados98921
sipa.codpersvinculados80706
sipa.codpersvinculados47695
sipa.codpersvinculados115999
sipa.codpersvinculados52710
sipa.trazabilidadORCID;2024-01-15
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