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Autoinflammatory syndromes: report on three cases

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Resumo:CONTEXT: Autoinflammatory syndromes are diseases manifested by recurrent episodes of fever and inflammation in multiple organs. There is no production of autoantibodies, but interleukins play an important role and acute-phase reactants show abnormalities. Our aim was to report on three cases of autoinflammatory syndromes that are considered to be rare entities. CASE REPORTS: The authors describe the clinical features of three patients whose diagnosis were the following: tumor necrosis factor receptor-associated periodic syndrome (TRAPS), chronic infantile neurological cutaneous articular (CINCA) syndrome and familial Mediterranean fever (FMF). All of the patients presented fever, joint or bone involvement and increased acute phase reactants. The genetic analysis confirmed the diagnoses of two patients. The great diversity of manifestations and the difficulties in genetic analyses make the diagnosing of these diseases a challenge.
Autores principais:Matos,Thais Cunha
Outros Autores:Terreri,Maria Teresa Ramos Ascensão; Petry,Daniela Gerent; Barbosa,Cássia Maria; Len,Claudio Arnaldo; Hilário,Maria Odete Esteves
Assunto:Relapsing fever Familial mediterranean fever Tumor necrosis factor-alpha Child NLRP3 protein, human [substance name] Inflammation
Ano:2009
País:Brasil
Tipo de documento:relatório
Tipo de acesso:acesso aberto
Instituição associada:IBICT
Idioma:inglês
Origem:Oasisbr
Descrição
Resumo:CONTEXT: Autoinflammatory syndromes are diseases manifested by recurrent episodes of fever and inflammation in multiple organs. There is no production of autoantibodies, but interleukins play an important role and acute-phase reactants show abnormalities. Our aim was to report on three cases of autoinflammatory syndromes that are considered to be rare entities. CASE REPORTS: The authors describe the clinical features of three patients whose diagnosis were the following: tumor necrosis factor receptor-associated periodic syndrome (TRAPS), chronic infantile neurological cutaneous articular (CINCA) syndrome and familial Mediterranean fever (FMF). All of the patients presented fever, joint or bone involvement and increased acute phase reactants. The genetic analysis confirmed the diagnoses of two patients. The great diversity of manifestations and the difficulties in genetic analyses make the diagnosing of these diseases a challenge.

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