Assuntos
Adenosina Desaminase/deficiência , Agamaglobulinemia/diagnóstico por imagem , Poliarterite Nodosa/diagnóstico por imagem , Imunodeficiência Combinada Severa/diagnóstico por imagem , Acidente Vascular Cerebral Lacunar/diagnóstico por imagem , Adenosina Desaminase/genética , Adolescente , Agamaglobulinemia/complicações , Agamaglobulinemia/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação , Poliarterite Nodosa/complicações , Poliarterite Nodosa/genética , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/genética , Pele/patologia , Acidente Vascular Cerebral Lacunar/complicações , Acidente Vascular Cerebral Lacunar/genéticaRESUMO
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.