期刊
JOURNAL OF PEDIATRICS
卷 151, 期 6, 页码 675-678出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2007.04.062
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Objectives To test the hypothesis that alterations in the Mediterranean fever (MEFV) gene area susceptibility factor for the development of polyarteritis nodosa (PAN) we investigated the prevalence of MEFV mutations in patients with PAN without tiny 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 cam, 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.
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