Matos Thais Cunha, Terreri Maria Teresa Ramos Ascensão, Petry Daniela Gerent, Barbosa Cássia Maria, Len Claudio Arnaldo, Hilário Maria Odete Esteves
Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil.
Sao Paulo Med J. 2009 Sep;127(5):314-6. doi: 10.1590/s1516-31802009000500012.
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.
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.
自身炎症性综合征是一类表现为多器官反复发热和炎症发作的疾病。不产生自身抗体，但白细胞介素起重要作用且急性期反应物显示异常。我们的目的是报告三例被认为是罕见实体的自身炎症性综合征病例。
作者描述了三名患者的临床特征，其诊断如下：肿瘤坏死因子受体相关周期性综合征（TRAPS）、慢性婴儿神经皮肤关节（CINCA）综合征和家族性地中海热（FMF）。所有患者均出现发热、关节或骨骼受累以及急性期反应物升高。基因分析证实了两名患者的诊断。临床表现的高度多样性以及基因分析的困难使得这些疾病的诊断成为一项挑战。
