Fonnesu Claudia, Cerquaglia Claudia, Giovinale Maria, Curigliano Valentina, Verrecchia Elena, de Socio Giuliana, La Regina Micaela, Gasbarrini Giovanni, Manna Raffaele
Department of Internal Medicine, Periodic Fevers Research Centre, Catholic University, Largo F.Vito 1, 00168 Rome, Italy.
Joint Bone Spine. 2009 May;76(3):227-33. doi: 10.1016/j.jbspin.2008.08.004. Epub 2008 Dec 16.
Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive, autoinflammatory disorder characterized by recurrent, self-limiting episodes of short duration (mean 24-72 h) of fever and serositis. FMF is the most frequent periodic febrile syndrome among the autoinflammatory syndromes (AS), a heterogeneous group of recently identified diseases clinically characterized by recurrent febrile attacks, in the absence of autoantibodies and antigen-specific T lymphocytes. In FMF, periodic attacks show inter- and intra-individual variability in terms of frequency and severity. Usually, they are triggered by apparently innocuous stimuli and may be preceded by a prodromal period. The Mediterranean FeVer gene (MEFV) responsible gene maps on chromosome 16 (16p13) encoding the pyrin-marenostrin protein. The precise pathologic mechanism is still to be definitively elucidated; however a new macromolecular complex, called inflammasome, seems to play a major role in the control of inflammation and it might be involved in the pathogenesis of FMF. The most severe long-term complication is type AA amyloidosis, principally affecting the kidney and the cause of chronic renal failure. Two types of risk factors, genetic and non-genetic, have been identified for this complication. Currently, the only effective treatment of Familial Mediterranean Fever is the colchicine. New drugs in a few colchicine resistant patients have been tried, but additional studies on larger series are necessary to draw definitive conclusions.
家族性地中海热(FMF)是一种遗传性常染色体隐性自身炎症性疾病,其特征为反复出现的、持续时间较短(平均24 - 72小时)的发热和浆膜炎,且可自行缓解。FMF是自身炎症性综合征(AS)中最常见的周期性发热综合征,AS是一组最近发现的异质性疾病,临床特征为反复发热发作,且无自身抗体和抗原特异性T淋巴细胞。在FMF中,周期性发作在频率和严重程度方面存在个体间和个体内的差异。通常,它们由看似无害的刺激引发,且可能在发作前有前驱期。负责的基因——地中海热基因(MEFV)定位于16号染色体(16p13),编码吡啉 - 马雷诺斯特林蛋白。确切的病理机制仍有待明确阐明;然而,一种名为炎性小体的新大分子复合物似乎在炎症控制中起主要作用,并且可能参与FMF的发病机制。最严重的长期并发症是AA型淀粉样变性,主要影响肾脏,是慢性肾衰竭的病因。已确定该并发症有遗传和非遗传两种类型的危险因素。目前,家族性地中海热唯一有效的治疗方法是秋水仙碱。已对少数秋水仙碱耐药患者试用了新药,但需要对更大系列进行更多研究才能得出明确结论。