TRAPS, un síndrome autoinflamatorio: Casos cínicos

Álvarez-Lobos, Manuel; Hunter, Bessie; Cofré, Colomba; Benítez, Carlos; Talesnik, Eduardo; Oyarzo, Mauricio; Aróstegui, Juan I; Yagüe, Jordi

Keywords: cytogenetic analysis, amyloidosis, receptors, tumor necrosis factor, type i

Abstract

Tumor 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

Más información

Título según SCIELO: TRAPS, un síndrome autoinflamatorio: Casos cínicos
Título de la Revista: Revista médica de Chile
Volumen: 134
Número: 12
Editorial: Sociedad Médica de Santiago
Fecha de publicación: 2006
Página de inicio: 1558
Página final: 1561
Idioma: es
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001200010&lng=en&nrm=iso&tlng=en
DOI:

10.4067/S0034-98872006001200010

Notas: SCIELO