The Journal of Pediatrics
Volume 151, Issue 6 , Pages 675-678, December 2007

Prevalence of the MEFV Gene Mutations in Childhood Polyarteritis Nodosa

  • Fatoş Yalçınkaya, MD

      Affiliations

    • Ankara University School of Medicine, Division of Pediatric Nephrology, Ankara, Turkey
    • Corresponding Author InformationReprint requests: Dr Fatoş Yalçınkaya, Çınar Sitesi 5 Blok No: 62, Ümitköy 06530, Ankara, Turkey.
    • ,
  • Z. Bı̇rsı̇n Özçakar, MD

      Affiliations

    • Ankara University School of Medicine, Division of Pediatric Nephrology, Ankara, Turkey
    • ,
  • Özgür Kasapçopur, MD

      Affiliations

    • Istanbul University Cerrahpaşa Medical School, Division of Pediatric Nephrology-Rheumatology, Ankara, Turkey
    • ,
  • Ayşenur Öztürk, MSc

      Affiliations

    • Ankara University School of Medicine, Division of Pediatric Genetics, Ankara, Turkey
    • ,
  • Nejat Akar, MD

      Affiliations

    • Ankara University School of Medicine, Division of Pediatric Genetics, Ankara, Turkey
    • ,
  • Ayşı̇n Bakkaloğlu, MD

      Affiliations

    • Hacettepe University School of Medicine, Division of Pediatric Nephrology-Rheumatology, Ankara, Turkey.
    • ,
  • Nı̇l Arısoy, MD

      Affiliations

    • Istanbul University Cerrahpaşa Medical School, Division of Pediatric Nephrology-Rheumatology, Ankara, Turkey
    • ,
  • Mesı̇ha Ekı̇m, MD

      Affiliations

    • Ankara University School of Medicine, Division of Pediatric Nephrology, Ankara, Turkey
    • ,
  • Seza Özen, MD

      Affiliations

    • Hacettepe University School of Medicine, Division of Pediatric Nephrology-Rheumatology, Ankara, Turkey.

Received 17 December 2006; received in revised form 12 March 2007; accepted 25 April 2007. published online 29 August 2007.

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 succeptibility 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.

Abbreviations: ASO, Antistreptolysin O, FMF, Familial Mediterranean fever, PAN, Polyarteritis nodosa

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PII: S0022-3476(07)00439-8

doi:10.1016/j.jpeds.2007.04.062

The Journal of Pediatrics
Volume 151, Issue 6 , Pages 675-678, December 2007

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