Abstract：
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.
摘要：
家族性地中海热（FMF）是一种单基因自身炎症性疾病，伴有反复发烧，腹痛,浆膜炎,关节表现，丹毒样红斑,以肾脏并发症为主要特征。由MEdmethaneanFeVer（MEFV）基因突变引起，它主要影响地中海血统的人，在土耳其发病率较高，犹太人,阿拉伯语,亚美尼亚人口。随着我们对FMF的理解的提高，越来越清楚的是，我们正面临着FMF的更复杂的情况，外显率,变体类型(函数增益与函数损失)，和继承。在这项研究中,来自土耳其和北塞浦路斯35所大学和机构的27,504名患者的MEFV基因分析结果和临床发现相结合，旨在更好地了解基因型-表型相关性以及特定变异如何有助于FMF患者的某些临床发现。我们的结果可能有助于更好地理解这种复杂的疾病，以及基因型有时如何导致表型。与文献中的许多研究不同，我们的研究调查了更广泛的症状谱以及基因型和表型数据之间的关系.在这个意义上,我们旨在指导所有在这一领域工作的临床医生和院士更好地为患者建立全面的数据集.我们研究的最大信息之一是，参与者的一些临床和人口统计数据缺乏统一性可能成为接近FMF患者和理解这种复杂疾病的障碍。
