Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, 06100, Turkey,
Semin Immunopathol. 2015 Jul;37(4):363-9. doi: 10.1007/s00281-015-0484-6. Epub 2015 Apr 2.
Familial Mediterranean fever is the most common monogenic periodic fever syndrome over the world especially in the eastern Mediterranean. It presents with recurrent and self-limited inflammatory attacks of fever and polyserositis along with high acute-phase reactants. The disease is associated with mutations in the MEFV gene that encodes pyrin, a component of inflammasome, which leads to exaggerated inflammatory response through uncontrolled production of interleukin 1. With the identification of the gene associated with the disease, we believed that everything was solved and that this was an ordinary monogenic disease with autosomal recessive inheritance. However, through the breathtaking progress in the basic research field as well as the clinical care of these patients, we have understood that the picture for this monogenic disorder was more complicated than we had anticipated. In this review, we have discussed the myths we believed in familial Mediterranean fever and how they have evolved during the past years.
家族性地中海热是世界上最常见的单基因周期性发热综合征，尤其在地中海东部地区更为常见。它表现为反复发作的、自限性的发热和多浆膜炎，伴有高急性期反应物。这种疾病与 MEFV 基因突变有关，该基因突变会导致编码 pyrin 的基因失活，pyrin 是炎症小体的一个组成部分，通过不受控制地产生白细胞介素 1 导致炎症反应过度。随着与疾病相关基因的确定，我们曾认为一切都已解决，这只是一种常见的常染色体隐性遗传的单基因疾病。然而，通过基础研究领域以及对这些患者的临床护理方面令人瞩目的进展，我们已经了解到这种单基因疾病的情况比我们预期的要复杂得多。在这篇综述中，我们讨论了我们曾深信不疑的家族性地中海热的一些误区，以及这些误区在过去几年中是如何演变的。
