Sozeri Betul, Kasapcopur Ozgur
Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
Curr Med Chem. 2015;22(16):1986-91. doi: 10.2174/0929867322666150311152300.
Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory syndrome. FMF is caused by mutations in the MEFV gene which encodes the pyrin protein. FMF is characterized by sporadic, paroxysmal attacks of fever and serosal inflammation, lasting 1-3 days. Patients may develop renal amyloidosis. Colchicine prevents attacks and renal amyloidosis.5% to 10% of the patients with FMF are resistant or intolerant to colchicine. Colchicine resistant patients may receive biological therapies. Anti-interleukin-1 drugs are the most important agents of biological treatments. In this review, colchicine resistance and treatment options will be evaluated.
家族性地中海热（FMF）是最常见的遗传性自身炎症综合征。FMF 由编码吡喃蛋白的 MEFV 基因突变引起。FMF 的特征为发热和浆膜炎症的散发性、阵发性发作，持续 1 - 3 天。患者可能会发展为肾淀粉样变性。秋水仙碱可预防发作和肾淀粉样变性。5%至 10%的 FMF 患者对秋水仙碱耐药或不耐受。对秋水仙碱耐药的患者可接受生物治疗。抗白细胞介素 - 1 药物是生物治疗的最重要药物。在本综述中，将评估秋水仙碱耐药性及治疗选择。
