Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa

被引：61

作者：

Yalcinkaya, Fatos ^{[1
]}

Oezcakar, Z. Birsin ^{[1
]}

Kasapcopur, Oezguer ^{[2
]}

Oeztuerk, Aysenur ^{[3
]}

Akar, Nejat ^{[3
]}

Bakkaloglu, Aysin ^{[4
]}

Arisoy, Nil ^{[2
]}

Ekim, Mesiha ^{[1
]}

Oezen, Seza ^{[4
]}

机构：

[1] Ankara Univ, Sch Med, Div Pediat Nephrol, TR-06100 Ankara, Turkey

[2] Istanbul Univ, Cerrahpasa Med Sch, Div Pediat Nephrol Rheumatol, Ankara, Turkey

[3] Ankara Univ, Sch Med, Div Pediat Genet, TR-06100 Ankara, Turkey

[4] Hacettepe Univ, Sch Med, Div Pediat Nephrol Rheumatol, Ankara, Turkey

来源：

JOURNAL OF PEDIATRICS | 2007年 / 151卷 / 06期

关键词：

D O I：

10.1016/j.jpeds.2007.04.062

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：675 / 678

页数：4

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