TRAPS, un síndrome autoinflamatorio: Casos cínicos

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 er...

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Autores principales:	Alvarez-Lobos,Manuel, Hunter,Bessie, Cofré,Colomba, Benítez,Carlos, Talesnik,Eduardo, Oyarzo,Mauricio, Aróstegui,Juan I, Yagüe,Jordi
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2006
Materias:	Amyloidosis Cytogenetic analysis Receptors, Tumor Necrosis Factor, type I
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001200010
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spelling	oai:scielo:S0034-988720060012000102007-01-24TRAPS, un síndrome autoinflamatorio: Casos cínicosAlvarez-Lobos,ManuelHunter,BessieCofré,ColombaBenítez,CarlosTalesnik,EduardoOyarzo,MauricioAróstegui,Juan IYagüe,Jordi Amyloidosis Cytogenetic analysis Receptors, Tumor Necrosis Factor, type I 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 caseinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.134 n.12 20062006-12-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001200010es10.4067/S0034-98872006001200010
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Amyloidosis Cytogenetic analysis Receptors, Tumor Necrosis Factor, type I
spellingShingle	Amyloidosis Cytogenetic analysis Receptors, Tumor Necrosis Factor, type I Alvarez-Lobos,Manuel Hunter,Bessie Cofré,Colomba Benítez,Carlos Talesnik,Eduardo Oyarzo,Mauricio Aróstegui,Juan I Yagüe,Jordi TRAPS, un síndrome autoinflamatorio: Casos cínicos
description	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
author	Alvarez-Lobos,Manuel Hunter,Bessie Cofré,Colomba Benítez,Carlos Talesnik,Eduardo Oyarzo,Mauricio Aróstegui,Juan I Yagüe,Jordi
author_facet	Alvarez-Lobos,Manuel Hunter,Bessie Cofré,Colomba Benítez,Carlos Talesnik,Eduardo Oyarzo,Mauricio Aróstegui,Juan I Yagüe,Jordi
author_sort	Alvarez-Lobos,Manuel
title	TRAPS, un síndrome autoinflamatorio: Casos cínicos
title_short	TRAPS, un síndrome autoinflamatorio: Casos cínicos
title_full	TRAPS, un síndrome autoinflamatorio: Casos cínicos
title_fullStr	TRAPS, un síndrome autoinflamatorio: Casos cínicos
title_full_unstemmed	TRAPS, un síndrome autoinflamatorio: Casos cínicos
title_sort	traps, un síndrome autoinflamatorio: casos cínicos
publisher	Sociedad Médica de Santiago
publishDate	2006
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001200010
work_keys_str_mv	AT alvarezlobosmanuel trapsunsindromeautoinflamatoriocasoscinicos AT hunterbessie trapsunsindromeautoinflamatoriocasoscinicos AT cofrecolomba trapsunsindromeautoinflamatoriocasoscinicos AT benitezcarlos trapsunsindromeautoinflamatoriocasoscinicos AT talesnikeduardo trapsunsindromeautoinflamatoriocasoscinicos AT oyarzomauricio trapsunsindromeautoinflamatoriocasoscinicos AT arosteguijuani trapsunsindromeautoinflamatoriocasoscinicos AT yaguejordi trapsunsindromeautoinflamatoriocasoscinicos
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TRAPS, un síndrome autoinflamatorio: Casos cínicos

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