Dewalle M, Domingo C, Rozenbaum M, Ben-Chétrit E, Cattan D, Bernot A, Dross C, Dupont M, Notarnicola C, Levy M, Rosner I, Demaille J, Touitou I
Hôpital A de Villeneuve, Montpellier, France.
Eur J Hum Genet. 1998 Jan;6(1):95-7. doi: 10.1038/sj.ejhg.5200170.
Familial Mediterranean Fever is one of the most frequent recessive disease in non-Ashkenazi Jews. The gene responsible for the disease (MEFV) has very recently been identified. The M694V ('MED') mutation was found in about 80% of the FMF Jewish (Iraqi and North African) chromosomes. To see if the presence of this mutation could be correlated with particular traits of the disease, we examined a number of clinical features in a panel of 109 Jewish FMF patients with 0, 1 or 2 MED mutations. We showed that homozygosity for this mutation was significantly associated with a more severe form of the disease. In homozygous patients, the disease started earlier (mean age 6.4 +/- 5 vs 13.6 +/- 8.9) and both arthritis and pleuritis were twice as frequent as in patients with one or no M694V mutation. Moreover, 3/3 patients with amyloidosis displayed two MED mutations. No association was found with fever, peritonitis, response to colchicine and erysipeloid eruption. The present result strongly suggests the potential prognostic value of the presence of this mutation.
家族性地中海热是阿什肯纳齐犹太人以外最常见的隐性疾病之一。导致该疾病的基因（MEFV）最近才被确定。在约80%的家族性地中海热犹太（伊拉克和北非）染色体中发现了M694V（“MED”）突变。为了探究该突变的存在是否与疾病的特定特征相关，我们在一组109名携带0、1或2个MED突变的犹太家族性地中海热患者中检查了一些临床特征。我们发现该突变的纯合性与更严重的疾病形式显著相关。在纯合患者中，疾病发病更早（平均年龄6.4±5岁对13.6±8.9岁），关节炎和胸膜炎的发生率是携带一个或不携带M694V突变患者的两倍。此外，3例淀粉样变性患者均有两个MED突变。未发现与发热、腹膜炎、对秋水仙碱的反应和类丹毒皮疹有关联。目前的结果强烈表明该突变存在潜在的预后价值。
