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. 2007 Dec;151(6):675-8.
doi: 10.1016/j.jpeds.2007.04.062. Epub 2007 Aug 28.

Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa

Fatoş Yalçinkaya  1 , Z Birsin Ozçakar, Ozgür Kasapçopur, Ayşenur Oztürk, Nejat Akar, Ayşin Bakkaloğlu, Nil Arisoy, Mesiha Ekim, Seza Ozen
Affiliations

Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa

Fatoş Yalçinkaya et al. J Pediatr. 2007 Dec.

Abstract

Objectives: 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).

Study design: 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.

Results: 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).

Conclusions: 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.

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