Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience

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dc.contributor.authorVergara, Cristian
dc.contributor.authorBorzutzky, Arturo
dc.contributor.authorGutierrez, Miguel A.
dc.contributor.authorIacobelli, Sergio
dc.contributor.authorTalesnik, Eduardo
dc.contributor.authorMartinez, Maria E.
dc.contributor.authorStange, Lilith
dc.contributor.authorBasualdo, Javier
dc.contributor.authorMaluje, Viviana
dc.contributor.authorJimenez, Renato
dc.contributor.authorWiener, Roberto
dc.contributor.authorTinoco, Javier
dc.contributor.authorJarpa, Elena
dc.contributor.authorArostegui, Juan I.
dc.contributor.authorYaguee, Jordi
dc.contributor.authorAlvarez-Lobos, Manuel
dc.date.accessioned2025-01-20T23:58:34Z
dc.date.available2025-01-20T23:58:34Z
dc.date.issued2012
dc.description.abstractHereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1-35) and 8 years (range 0.3-21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5-15) for FMF and 21 days (range 9.5-30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G -> A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G -> A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations.
dc.fuente.origenWOS
dc.identifier.doi10.1007/s10067-012-1942-3
dc.identifier.eissn1434-9949
dc.identifier.issn0770-3198
dc.identifier.urihttps://doi.org/10.1007/s10067-012-1942-3
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/95257
dc.identifier.wosidWOS:000303449300011
dc.issue.numero5
dc.language.isoen
dc.pagina.final834
dc.pagina.inicio829
dc.revistaClinical rheumatology
dc.rightsacceso restringido
dc.subjectAutoinflammatory syndromes
dc.subjectFamilial Mediterranean fever
dc.subjectHispanics
dc.subjectPeriodic fevers
dc.subjectTumor necrosis factor receptor-associated periodic syndrome
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleClinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience
dc.typeartículo
dc.volumen31
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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