Genética hereditária: pesquisas atuais

Abstrato

Prevalence of Mefv Gene Mutations and their Association with Clinical Phenotypes in 102 Caucasian Children with Henoch-Schonlein Purpura

Kolnik M, Toplak N, Debeljak M and Avčin T

Aim: To assess the prevalence of MEFV mutations in Caucasian children with Henoch-Schönlein purpura (HSP) and to investigate a possible association between the two diseases in a population with presumably low incidence of familial Mediterranean fever (FMF). Methods: One hundred and two children diagnosed with HSP between January 2002 and February 2009 were included in the study. Clinical data were obtained from medical charts. Children were tested for 6 common MEFV mutations. To find out the carrier rate of mutations in MEFV gene in Slovenian population a control group of 105 apparently healthy adults was screened. Results: Heterozygous MEFV gene mutations were found in 6% of children with HSP and in 7% of apparently healthy adults. The most common allelic variants found in both groups were as follows: V726A in 5 participants, K695R in 4 participants, E148Q in 3 participants and M694V in 1 participant. No significant differences in HSP clinical picture between the group of children with and without mutations in MEFV were found. HSP patients with MEFV mutations were younger than patients without MEFV mutations. Conclusion: In contrast to previously published researches, MEFV mutations are not more frequent in children with HSP comparing to apparently healthy population and have no influence on the clinical presentation of HSP.