Kucuk Adem, Gezer Ilknur Albayrak, Ucar Ramazan, Karahan Ali Yavuz
Necmettin Erbakan Üniversitesi Romatoloji Bilim Dalı Konya,Turkey.
Eğitim ve Araştırma Hastanesi Fiziksel Tıp ve Rehabilitasyon Bölümü Konya, Turkey.
Acta Medica (Hradec Kralove). 2014;57(3):97-104. doi: 10.14712/18059694.2014.47.
Familial Mediterranean Fever is an autosomal recessive inherited disease with a course of autoinflammation, which is characterized by the episodes of fever and serositis. It affects the populations from Mediterranean basin. Genetic mutation of the disease is on MEFV gene located on short arm of Chromosome 16. The disease is diagnosed based on clinical evaluation. Amyloidosis is the most important complication. The only agent that decreases the development of amyloidosis and the frequency and severity of the episodes is colchicine, which has been used for about 40 years. In this review, we aimed to discuss especially the most recent advances about Familial Mediterranean Fever which is commonly seen in our population.
家族性地中海热是一种常染色体隐性遗传性疾病，呈自身炎症病程，其特征为发热和浆膜炎发作。它影响地中海盆地的人群。该疾病的基因突变位于16号染色体短臂上的MEFV基因。该疾病通过临床评估进行诊断。淀粉样变性是最重要的并发症。唯一能减少淀粉样变性发展以及发作频率和严重程度的药物是秋水仙碱，它已被使用约40年。在本综述中，我们旨在特别讨论在我们人群中常见的家族性地中海热的最新进展。
