Autoinflammatory syndromes: report on three cases

Sao Paulo Medical Journal

Thais Cunha Matos¹  Maria Teresa Ramos Ascensão Terreri¹  Daniela Gerent Petry¹  Cássia Maria Barbosa¹  Claudio Arnaldo Len¹  Maria Odete Esteves Hilário¹ 

[1] ,Universidade Federal de São Paulo Department of Pediatrics Division of Pediatric RheumatologySão Paulo,Brazil

关键词: Relapsing fever;    Familial mediterranean fever;    Tumor necrosis factor-alpha;    Child;    NLRP3 protein;    human [substance name];    Inflammation;    Febre recorrente;    Febre familiar do mediterrâneo;    Fator de necrose tumoral alfa;    Criança;    Inflamação;   

DOI  :  10.1590/S1516-31802009000500012

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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