TRAPS, un síndrome autoinflamatorio: Casos cínicos

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 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

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Main Authors: Alvarez-Lobos,Manuel, Hunter,Bessie, Cofré,Colomba, Benítez,Carlos, Talesnik,Eduardo, Oyarzo,Mauricio, Aróstegui,Juan I, Yagüe,Jordi
Format: Digital revista
Language:Spanish / Castilian
Published: Sociedad Médica de Santiago 2006
Online Access: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
collection OJS
country Chile
countrycode CL
component Revista
access En linea
databasecode rev-scielo-cl
tag revista
region America del Sur
libraryname SciELO
language Spanish / Castilian
format Digital
author Alvarez-Lobos,Manuel
Hunter,Bessie
Cofré,Colomba
Benítez,Carlos
Talesnik,Eduardo
Oyarzo,Mauricio
Aróstegui,Juan I
Yagüe,Jordi
spellingShingle Alvarez-Lobos,Manuel
Hunter,Bessie
Cofré,Colomba
Benítez,Carlos
Talesnik,Eduardo
Oyarzo,Mauricio
Aróstegui,Juan I
Yagüe,Jordi
TRAPS, un síndrome autoinflamatorio: Casos cínicos
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
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
publisher Sociedad Médica de Santiago
publishDate 2006
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001200010
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AT benitezcarlos trapsunsindromeautoinflamatoriocasoscinicos
AT talesnikeduardo trapsunsindromeautoinflamatoriocasoscinicos
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