Frenkel Joost, Bemelman Frederike J, Potter van Loon Bert-Jan, Simon Anna
Universitair Medisch Centrum Utrecht, afd. Algemene Pediatrie, Utrecht, the Netherlands.
Ned Tijdschr Geneeskd. 2013;157(18):A5784.
Familial Mediterranean fever (FMF) is common among Turkish and Moroccan migrants. We describe three patients with FMF. A 3-year-old girl with recurrent fever and abdominal pain who was diagnosed early with FMF and treated effectively with colchicine. An adolescent girl who required interleukin (IL)-1 blockade to achieve disease remission. And a 37-year-old woman in whom the attacks of FMF had not been recognised, but who developed end-stage kidney failure due to AA amyloidosis. Mutations in the MEFV gene underlie the disease in most but not all patients. Therefore, FMF remains a clinical diagnosis. FMF patients suffer recurrent bouts of inflammation, often with fever, serositis or arthritis. The major complication is AA amyloidosis. The inflammatory process is mediated by IL-1β. When started early, colchicine prophylaxis can prevent amyloidosis. When colchicine fails, IL-1 blockade has shown promising results. Timely diagnosis and treatment can make the difference between near normal health and end-stage kidney failure.
家族性地中海热（FMF）在土耳其和摩洛哥移民中很常见。我们描述了三名FMF患者。一名3岁女童反复发热和腹痛，早期被诊断为FMF，并用秋水仙碱有效治疗。一名青春期女孩需要白细胞介素（IL）-1阻断剂来实现疾病缓解。还有一名37岁女性，其FMF发作未被识别，但因AA淀粉样变性发展为终末期肾衰竭。MEFV基因突变是大多数（但不是所有）患者发病的基础。因此，FMF仍然是一种临床诊断。FMF患者会反复出现炎症发作，常伴有发热、浆膜炎或关节炎。主要并发症是AA淀粉样变性。炎症过程由IL-1β介导。早期开始使用秋水仙碱进行预防可预防淀粉样变性。当秋水仙碱治疗失败时，IL-1阻断已显示出有希望的结果。及时诊断和治疗能够决定患者是接近正常健康状态还是发展为终末期肾衰竭。
