Saito Megumu, Nishikomori Ryuta, Kambe Naotomo
Department of Pediatrics, Kyoto University Graduate School of Medicine.
Nihon Rinsho Meneki Gakkai Kaishi. 2007 Apr;30(2):78-85. doi: 10.2177/jsci.30.78.
Familial Mediterranean fever (FMF) is an autosomal recessive disease which predominantly affects certain ethnic groups mainly Sephardic Jews, Turks, Arabs and Armenians. FMF has been rarely reported in Japan. Characteristic symptoms include self-limited recurrent attacks of fever with serositis such as peritonitis, pleuritis, and arthritis. The most serious complications of FMF are secondary AA amyloidosis and subsequent chronic renal failure. FMF is caused by mutations in MEFV gene which encodes a protein called pyrin. Pyrin regulates processing of IL-1beta, NF-kappaB activation and apoptosis. Dysregulated function of pyrin results in excessive production of proinflammatory cytokine thereby evoking inflammatory attacks. The mainstay of treatment is colchicine which is effective for both relieving symptoms and preventing secondary amyloidosis.
家族性地中海热(FMF)是一种常染色体隐性疾病,主要影响某些特定种族群体,主要是西班牙系犹太人、土耳其人、阿拉伯人和亚美尼亚人。FMF在日本鲜有报道。其特征性症状包括伴有腹膜炎、胸膜炎和关节炎等浆膜炎的自限性反复发热发作。FMF最严重的并发症是继发性AA淀粉样变性及随后的慢性肾衰竭。FMF由编码名为吡啉蛋白的MEFV基因突变引起。吡啉调节白细胞介素-1β的加工、核因子-κB激活和细胞凋亡。吡啉功能失调导致促炎细胞因子过度产生,从而引发炎症发作。治疗的主要药物是秋水仙碱,它对缓解症状和预防继发性淀粉样变性均有效。