El-Shanti H E
Department of Pediatrics, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan.
Saudi Med J. 2001 Feb;22(2):104-9.
Familial Mediterranean Fever is a genetic disorder frequently diagnosed among the Arabs. It is also prevalent among Jews, Armenians and Turks. The clinical picture consists of febrile and painful attacks that differ in quality across patients and even within the same patient. There may be accompanying joint pain, chest pain, skin manifestations and other findings, and amyloidosis may occur in some patients as a complication. The primary treatment is Colchicine, which decreases the frequency of the attacks and prevents the occurrence of amyloidosis. The gene responsible for Familial Mediterranean Fever, MEFV, has been mapped and cloned and mutations were identified within its coding sequence. It encodes a protein that is expected to be a down regulator of inflammation. The spectrum of mutations in the Arabic population is partially studied. There are still several issues to be solved before we fully understand the disorder, and to enable us to confront it and decrease the morbidity and mortality inflicted by it.
家族性地中海热是一种在阿拉伯人中经常被诊断出的遗传性疾病。它在犹太人、亚美尼亚人和土耳其人中也很普遍。临床表现为发热和疼痛发作，不同患者之间甚至同一患者体内发作的性质都有所不同。可能伴有关节疼痛、胸痛、皮肤表现和其他症状，一些患者可能会出现淀粉样变性并发症。主要治疗方法是秋水仙碱，它可降低发作频率并预防淀粉样变性的发生。导致家族性地中海热的基因MEFV已被定位和克隆，其编码序列内的突变也已被识别。它编码一种预计为炎症下调因子的蛋白质。阿拉伯人群中的突变谱已得到部分研究。在我们完全了解这种疾病并能够应对它并降低其造成的发病率和死亡率之前，仍有几个问题有待解决。
