Ugan Yunus, Doğru Atalay, Şencan Hüseyin, Şahin Mehmet, Ercan Tunç Şevket
Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Suleyman Demirel University, 32260 Isparta, Turkey.
Faculty of Medicine, Department of Internal Medicine, Suleyman Demirel University, 32260 Isparta, Turkey.
Case Rep Med. 2016;2016:5134546. doi: 10.1155/2016/5134546. Epub 2016 Apr 7.
Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. FMF may be accompanied by sacroiliitis and various forms of vasculitis. The most common forms of associated vasculitis are Henoch-Schonlein purpura and polyarteritis nodosa (PAN). We have presented here a fairly rare case of FMF, accompanied by both sacroiliitis and PAN.
家族性地中海热(FMF)是一种常染色体隐性遗传的自身炎症性疾病,其特征为反复发热和浆膜炎发作。已知该疾病由位于16号染色体短臂上的MEFV(地中海热)基因突变引起。尽管迄今为止已描述了MEFV基因中的310多种序列变异,但诊断仍通过临床确立。FMF可能伴有骶髂关节炎和各种形式的血管炎。最常见的相关血管炎形式是过敏性紫癜和结节性多动脉炎(PAN)。我们在此呈现了一例相当罕见的FMF病例,同时伴有骶髂关节炎和PAN。