Savey Lea, Grateau Gilles, Georgin-Lavialle Sophie
Service de médecine interne, hôpital Tenon, AP-HP, 4, rue de la Chine, 75020 Paris, France; Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (Cerémaia), 4, rue de la Chine, 75020 Paris, France; Sorbonne université, 4, rue de la Chine, 75020 Paris, France.
Service de médecine interne, hôpital Tenon, AP-HP, 4, rue de la Chine, 75020 Paris, France; Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (Cerémaia), 4, rue de la Chine, 75020 Paris, France; Sorbonne université, 4, rue de la Chine, 75020 Paris, France.
Nephrol Ther. 2021 Apr;17S:S119-S125. doi: 10.1016/j.nephro.2020.02.013.
Familial Mediterranean fever is the most frequent autoinflammatory disease with autosomal recessive transmission. Most patients carry mutations in the MEFV gene encoding the protein marenostrin/pyrin. It is characterised by short ant recurrent attacks of fever and serositis with abdominal or thoracic pain, usually lasting less than 3 days, raised inflammatory biologic markers in an individual of Mediterranean origin. Colchicine has been shown to be effective in prevention of inflammatory attacks and development of amyloidosis which is responsible of nephrotic syndrome and chronic renal failure. Better knowledge in pathogenic mechanisms permitted identification of interleukin-1 beta (Il-1 β) as the main cytokine target. Anti-IL-1 therapy must be considered as a second line treatment in case of persistent inflammation or colchicine intolerance.
家族性地中海热是最常见的常染色体隐性遗传的自身炎症性疾病。大多数患者在编码marenostrin/吡啉蛋白的MEFV基因中携带突变。其特征为发热和浆膜炎的短期反复发作为，伴有腹痛或胸痛，通常持续不到3天，在地中海血统个体中炎症生物标志物升高。秋水仙碱已被证明对预防炎症发作和淀粉样变性的发展有效，淀粉样变性是肾病综合征和慢性肾衰竭的病因。对致病机制的深入了解使得白细胞介素-1β（IL-1β）被确定为主要的细胞因子靶点。在持续性炎症或秋水仙碱不耐受的情况下，抗IL-1治疗必须被视为二线治疗。
