Yalçinkaya Fatoş, Ozçakar Z Birsin, Kasapçopur Ozgür, Oztürk Ayşenur, Akar Nejat, Bakkaloğlu Ayşin, Arisoy Nil, Ekim Mesiha, Ozen Seza
Ankara University School of Medicine, Division of Pediatric Nephrology, Ankara, Turkey.
J Pediatr. 2007 Dec;151(6):675-8. doi: 10.1016/j.jpeds.2007.04.062. Epub 2007 Aug 28.
To test the hypothesis that alterations in the Mediterranean fever (MEFV) gene are a susceptibility factor for the development of polyarteritis nodosa (PAN) we investigated the prevalence of MEFV mutations in patients with PAN without any symptoms of familial Mediterranean fever (FMF).
Pediatric patients with PAN (n = 29) were enrolled in this study. Six predominant mutations (p.M694V, p.M680I, p.M694I, p.V726A, p.K695R, p.E148Q) in the MEFV gene were studied.
Fifteen MEFV mutations were identified in 58 chromosomes. Eleven of the 29 patients (38%) were found to carry MEFV mutations. Three (10.3%) of them had homozygous p.M694V mutation, and one of the patients (3.4%) had compound heterozygous mutation (p.V726A/p.E148Q).
Our study confirms that alterations in the MEFV gene are important susceptibility factors for the development of PAN. We believe that mutations in MEFV gene provide a basis for the development of PAN both by forming a proinflammatory state and by possibly giving exaggerated response to streptococcal infections.
为了验证地中海热（MEFV）基因改变是结节性多动脉炎（PAN）发病的一个易感因素这一假说，我们调查了无家族性地中海热（FMF）任何症状的PAN患者中MEFV突变的患病率。
本研究纳入了29例PAN儿科患者。对MEFV基因中的6种主要突变（p.M694V、p.M680I、p.M694I、p.V726A、p.K695R、p.E148Q）进行了研究。
在58条染色体中鉴定出15个MEFV突变。29例患者中有11例（38%）被发现携带MEFV突变。其中3例（10.3%）有纯合子p.M694V突变，1例患者（3.4%）有复合杂合子突变（p.V726A/p.E148Q）。
我们的研究证实MEFV基因改变是PAN发病的重要易感因素。我们认为，MEFV基因中的突变通过形成促炎状态以及可能对链球菌感染产生过度反应，为PAN的发病提供了一个基础。
