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Protracted febrile myalgia in an afebrile child with familial Mediterranean fever

机译:伴有家族性地中海热的发热性儿童的持续性发热性肌痛

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Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent self-limited attacks of fever and serositis. It primarily occurs in ethnic groups that reside in the Mediterranean basin, such as Turks, Sephardic Jews, Arabs and Armenians. The gene responsible for FMF, MEFV, encodes a pyrin or marenostrin protein that has a key role in regulation of activity of inflammasomes. Certain mutations, particularly M694V, lead to a more severe course of the disease with high risk of development of amyloidosis.[1]
机译:家族性地中海热(FMF)是一种常染色体隐性遗传疾病,其特征是反复出现发烧和浆膜炎的自限性发作。它主要发生在居住在地中海盆地的民族中,例如土耳其人,塞巴第犹太人,阿拉伯人和亚美尼亚人。负责FMF的基因MEFV编码一种在调节炎症小体活性中起关键作用的吡喃或marenostrin蛋白。某些突变,特别是M694V突变,会导致该病的病程更加严重,并具有淀粉样变性病发展的高风险。[1]

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