MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura.

[familial mediterranean fever]

Due to an increased frequency of vasculitis in FMF patients , many investigators have studied MEFV mutations in patients with HSP . The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP ). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carrier rate in Egyptian children .The study enrolled 90 individuals , sixty children with Henoch-Schonlein purpura (HSP ), together with 30 sex-and age-matched apparently healthy controls . The entire study group was screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products .Patients with HSP had a significantly higher frequency of MEFV mutations (61 .7 %), when compared to the apparently healthy control population (36 .7 %). V 726 A was the most frequent mutation with an allelic frequency of 10 .8 %. Ninety - one percent of patients with MEFV mutations were heterozygous for one mutation , while 8 .1 % had a compound heterozygous MEFV gene mutations . The mutation V 726 A , followed by E 148 Q , were the leading mutations , present in 16 .6 % and in 13 .3 % of controls .MEFV mutations may be related to HSP susceptibility in children . The mutations were not associated with any clinical and laboratory manifestations . Screening for MEFV mutations in larger number of HSP children may be beneficial to evaluate any possible relationship between certain types of MEFV mutations and HSP , and compare the HSP MEFV mutations to the types of MEFV mutations associated with FMF .

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familial mediterranean fever

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