Prevalence of the MEFV Gene Mutations in Childhood Polyarteritis Nodosa

• Published in: The Journal of pediatrics Vol. 151; no. 6; pp. 675 - 678
• Main Authors: Yalçınkaya, Fatoş, MD, Özçakar, Z. Bı̇rsı̇n, MD, Kasapçopur, Özgür, MD, Öztürk, Ayşenur, MSc, Akar, Nejat, MD, Bakkaloğlu, Ayşı̇n, MD, Arısoy, Nı̇l, MD, Ekı̇m, Mesı̇ha, MD, Özen, Seza, MD
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.12.2007; Elsevier
• Subjects: Adolescent; Biological and medical sciences; Child; Child, Preschool; Colchicine - therapeutic use; Cytoskeletal Proteins - genetics; Epidemiology; Female; General aspects; Genetic Predisposition to Disease; Genotype; Humans; Immunosuppressive Agents - therapeutic use; Male; Medical sciences; Miscellaneous; Mutation; Pediatrics; Polyarteritis Nodosa - drug therapy; Polyarteritis Nodosa - genetics; Public health. Hygiene; Public health. Hygiene-occupational medicine; Pyrin; Antistreptolysin O; Familial Mediterranean fever; PAN; Polyarteritis nodosa; ASO; FMF; Human; Pediatrics; Prevalence; Cardiovascular disease; Periarteritis nodosa; Epidemiology; Vascular disease; Vasculitis; Gene; Systemic disease; Genetics; Mutation; Child; Public health
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2007.04.062

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.