title: Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schönlein purpura without FMF symptoms.
abstract: Familial Mediterranean fever (FMF) has been reported more frequently in patients presenting with Henoch-Schönlein purpura (HSP) than in the general population. But, there is no clear knowledge about MEFV mutations in patients with HSP. We investigated the prevalence of MEFV mutations in children with HSP and without FMF whether these mutations have any effect on the disease course or complications. A total of 76 children with HSP who had no typical symptoms of FMF were screened for the mutations in exon 2 and exon 10 of the MEFV gene. Eleven of 76 patients (14.4 %) were heterozygous (E148Q in 5, M694V in 4, M680I in 1, E148V in 1), 5 (6.6 %) were homozygous (M694V/M694V in 4, V726A/V726A in 1), and 2 (2.6 %) were compound heterozygous (E148Q/M694V mutations in 1 and L110P/E148Q mutations in 1). Altogether, 7 patients carried 2 mutated MEFV alleles (9.2 %), which was higher than that observed in the general Turkish population (1 %). No significant differences in joint, gastrointestinal, renal involvement, or subcutaneous edema, and also acute phase reactants including leukocyte count, erythrocyte sedimentation rate, and serum C-reactive protein concentration were found between the groups. The prevalence of the two allele-MEFV mutations in patients with HSP was found higher than that of the general population. However, it seems that MEFV gene mutations may not have any effect on the clinical presentation of HSP.
authors.affiliation: Pediatric Rheumatology Unit, Department of Pediatrics, School of Medicine, Akdeniz University, 07070 Antalya, Turkey. d.caglaserpil@yahoo.com
authors.forename: Cagla Serpil
authors.initials: CS
authors.lastname: Dogan
authors.forename: Sema
authors.initials: S
authors.lastname: Akman
authors.forename: Mustafa
authors.initials: M
authors.lastname: Koyun
authors.forename: Turker
authors.initials: T
authors.lastname: Bilgen
authors.forename: Elif
authors.initials: E
authors.lastname: Comak
authors.forename: Arife Uslu
authors.initials: AU
authors.lastname: Gokceoglu
mesh_terms: D000293:Adolescent; D002097:C-Reactive Protein / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics; D005260:Female; D006801:Humans; D011695:IgA Vasculitis / Q000097:blood / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D015995:Prevalence; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D002097:C-Reactive Protein