La Regina Micaela, Nucera Gabriella, Diaco Marialuisa, Procopio Antonio, Gasbarrini Giovanni, Notarnicola Cecile, Kone-Paut Isabelle, Touitou Isabelle, Manna Raffaele
Department of Internal Medicine, Catholic University, Rome, Italy.
Eur J Hum Genet. 2003 Jan;11(1):50-6. doi: 10.1038/sj.ejhg.5200916.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder, characterised by short, recurrent attacks of fever with abdominal, chest or joint pain and erysipelas-like erythema. It is an ethnically restricted genetic disease, found commonly among Mediterranean populations, as well as Armenians, Turks, Arabs and Jews. Traditionally, Italians have been considered little affected by FMF, despite the geographical position of Italy (northern Mediterranean basin) and the migratory changes in its population. The objective was to characterise the demographic, clinical and genetic features of FMF in Italy. Patients of Italian origin were recruited from those referred to Italian-French medical centres for FUO (Fever of Unknown Origin) or 'surgical' emergencies; clinical history, genealogy and physical examination were recorded; all other possible infectious, neoplastic, auto-immune and metabolic diseases were excluded. Mutational analysis of the gene responsible for FMF (MEFV on 16p13.3) was performed, after which geno-phenotypical correlations were established. Italian FMF patients, 40 women and 31 men, aged from 3 to 75 years, have shown all the clinical manifestations indicative of FMF described in the literature, but with a lower incidence of amyloidosis. The genetic tests have been contributive in 42% of cases. The frequency of each different mutation has been similar to that found in a series of 'endemic' countries. The geno-phenotypical correlations have suggested the existence of genetic and/or environmental modifier-factors. Among Italians FMF seems to be more frequent than was believed in the past. The data presented are consistent with their geographical location and their history.
家族性地中海热（FMF）是一种常染色体隐性疾病，其特征为发热伴腹部、胸部或关节疼痛以及丹毒样红斑的短暂、反复性发作。它是一种受种族限制的遗传性疾病，常见于地中海人群以及亚美尼亚人、土耳其人、阿拉伯人和犹太人中。传统上，尽管意大利处于（地中海北部盆地）地理位置且其人口有迁徙变化，但一直认为意大利人受FMF影响较小。目的是描述意大利FMF的人口统计学、临床和遗传特征。从转诊至意大利 - 法国医疗中心的不明原因发热（FUO）或“外科”急症患者中招募意大利裔患者；记录临床病史、家谱和体格检查；排除所有其他可能的感染性、肿瘤性、自身免疫性和代谢性疾病。对负责FMF的基因（位于16p13.3的MEFV）进行突变分析，之后建立基因型 - 表型相关性。40名女性和31名男性，年龄在3至75岁之间的意大利FMF患者表现出了文献中描述的所有指示FMF的临床表现，但淀粉样变性的发生率较低。基因检测在42%的病例中起到了辅助作用。每种不同突变的频率与在一系列“地方性”国家中发现的频率相似。基因型 - 表型相关性表明存在遗传和/或环境修饰因素。在意大利人中，FMF似乎比过去认为的更为常见。所呈现的数据与其地理位置和历史相符。
