TRAPS, un síndrome autoinflamatorio: Casos cínicos / Tumor necrosis factor receptor associated periodic syndrome (TRAPS): Report of two cases
Rev. méd. Chile
;
134(12): 1558-1561, dic. 2006. ilus, tab
Artigo
em Espanhol
| LILACS
| ID: lil-441435
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Febre Familiar do Mediterrâneo
/
Receptores Tipo I de Fatores de Necrose Tumoral
/
Mutação
Tipo de estudo:
Fatores de risco
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2006
Tipo de documento:
Artigo
País de afiliação:
Chile
/
Espanha
Instituição/País de afiliação:
Hospital Clínico de Barcelona/ES
/
Hospital Luis Calvo Mackenna/CL
/
Pontificia Universidad Católica de Chile/CL
Similares
MEDLINE
...
LILACS
LIS