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J Pediatr ; 151(6): 675-8, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18035151

RESUMO

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 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.


Assuntos
Proteínas do Citoesqueleto/genética , Predisposição Genética para Doença , Mutação , Poliarterite Nodosa/genética , Adolescente , Criança , Pré-Escolar , Colchicina/uso terapêutico , Feminino , Genótipo , Humanos , Imunossupressores/uso terapêutico , Masculino , Poliarterite Nodosa/tratamento farmacológico , Pirina
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