Gülhan Bora, Büyükcam Ayşe, Touitou Isabelle, Özen Seza
Division of Pediatric Nephrology and Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2013 May-Jun;55(3):315-8.
The systemic autoinflammatory diseases are inflammatory disorders characterized by uncontrolled inflammation of the innate immune system. A common monogenic autoinflammatory disease is familial Mediterranean fever (FMF), associated with mutations in the MEFV gene. Another autoinflammatory disease group is cryopyrin-associated periodic syndromes (CAPS), which are characterized by urticarial rash and mutations of the gene NLRP. Systemiconset juvenile idiopathic arthritis (soJIA) is classified as a multifactorial autoinflammatory disease. We report two cases of systemic autoinflammatory disease with homozygous E148Q mutation in the FMF gene. They had unusual features, such as urticarial rash, non-erysipeloid erythema, lymphadenopathy, and hepatosplenomegaly, and neurological findings in one. These patients met the "definition" criteria for FMF with two mutations in the MEFV gene. They fit the "description" criteria for CAPS with their fever, urticaria, and other clinical features. They also met the "classification" criteria for soJIA, with the fever, rash, arthritis, and accompanying systemic features.
系统性自身炎症性疾病是一类以先天性免疫系统不受控制的炎症为特征的炎症性疾病。一种常见的单基因自身炎症性疾病是家族性地中海热（FMF），与MEFV基因突变有关。另一类自身炎症性疾病是冷吡啉相关周期性综合征（CAPS），其特征为荨麻疹样皮疹和NLRP基因突变。系统性起病的幼年特发性关节炎（soJIA）被归类为多因素自身炎症性疾病。我们报告了两例FMF基因发生纯合E148Q突变的系统性自身炎症性疾病病例。他们具有不寻常的特征，如荨麻疹样皮疹、非丹毒样红斑、淋巴结病和肝脾肿大，其中一例还有神经系统表现。这些患者符合MEFV基因有两个突变的FMF“定义”标准。他们的发热、荨麻疹及其他临床特征符合CAPS的“描述”标准。他们也符合soJIA的“分类”标准，有发热、皮疹、关节炎及伴随的全身特征。
