Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa.
OBJECTIVE
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).


METHODS
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.
Yalçinkaya
Fatoş
F
Ankara University School of Medicine, Division of Pediatric Nephrology, Ankara, Turkey. yalcinkaya@tr.net
Ozçakar
Z Birsin
ZB
Kasapçopur
Ozgür
O
Oztürk
Ayşenur
A
Akar
Nejat
N
Bakkaloğlu
Ayşin
A
Arisoy
Nil
N
Ekim
Mesiha
M
Ozen
Seza
S
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003078:Colchicine / Q000627:therapeutic use; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D010488:Polyarteritis Nodosa / Q000188:drug therapy / Q000235:genetics*; D000071198:Pyrin
D003598:Cytoskeletal Proteins; D007166:Immunosuppressive Agents; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine