Chile | Artículos de revistas
dc.creatorAlvarez-Lobos,Manuel
dc.creatorHunter,Bessie
dc.creatorCofré,Colomba
dc.creatorBenítez,Carlos
dc.creatorTalesnik,Eduardo
dc.creatorOyarzo,Mauricio
dc.creatorAróstegui,Juan I
dc.creatorYagüe,Jordi
dc.date2006-12-01
dc.date.accessioned2017-03-07T15:45:14Z
dc.date.available2017-03-07T15:45:14Z
dc.identifierhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001200010
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/390369
dc.descriptionTumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is an autoinflammatory disorder associated to a mutation of the Tumor Necrosis Factor Receptor 1 (TNFR1) whose clinical presentation consists on recurrent episodes of prolonged fever, abdominal pain, myalgias, migratory cutaneous erythema, conjunctivitis or periorbitary edema. The diagnosis is confirmed by genetic analysis of the TNFR1 gene. Its main complication is amyloidosis and the treatment is based on the use of corticosteroids or anti-TNF antibodies. We report a 17 year-old male and 23 year-old female with the syndrome. Both cases had heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case
dc.formattext/html
dc.languagees
dc.publisherSociedad Médica de Santiago
dc.sourceRevista médica de Chile v.134 n.12 2006
dc.subjectAmyloidosis
dc.subjectCytogenetic analysis
dc.subjectReceptors, Tumor Necrosis Factor, type I
dc.titleTRAPS, un síndrome autoinflamatorio: Casos cínicos
dc.typeArtículos de revistas


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