1. MEFV gene mutations in Henoch- Schonlein purpura
- Author
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Derya Beyza Sayın, Umut Altug, Cüneyt Ensari, Arzu Ensari, and Kırıkkale Üniversitesi
- Subjects
Male ,Mutation rate ,Heterozygote ,Henoch-Schonlein purpura ,Adolescent ,IgA Vasculitis ,DNA Mutational Analysis ,MEFV gene ,Familial Mediterranean fever ,Blood Sedimentation ,Gene mutation ,Compound heterozygosity ,medicine.disease_cause ,Polymerase Chain Reaction ,Rheumatology ,familial Mediterranean fever ,Risk Factors ,medicine ,Humans ,Genetic Predisposition to Disease ,Child ,Mutation ,Chi-Square Distribution ,medicine.diagnostic_test ,business.industry ,Homozygote ,Pyrin ,medicine.disease ,MEFV ,Prognosis ,Cytoskeletal Proteins ,C-Reactive Protein ,Phenotype ,Erythrocyte sedimentation rate ,Child, Preschool ,Immunology ,purpura ,Disease Progression ,Female ,Inflammation Mediators ,business ,Schonlein-Henoch - Abstract
ensari, arzu/0000-0001-7036-4457 WOS: 000334521000017 PubMed: 23981758 AimCoexistence of familial Mediterranean fever (FMF) with various systemic vasculitides, including Henoch-Schonlein purpura (HSP) and other inflammatory disorders has been reported and the MEFV gene has been suggested to play an important role in the pathogenesis of this association. In the present study, the mutation rate of the MEFV gene in HSP and its association with the clinical course of the disease were evaluated. MethodThe study group comprised 68 children (36 boys and 32 girls) diagnosed as having HSP. The spectrum and degree of organ involvement and the levels of serum C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were documented for each patient. Allele-specific PCR using oligonucleotide probes which include 12 MEFV mutations (E148Q, P369S, F479L, M680I [G/C], M680I [G/A], I692del, M694V, M694I, K695R, V726A, A744S, R761H) were used for mutation analysis. ResultsOf the 68 patients studied, 50 (74%) showed no mutation, while 18 (26%) had MEFV mutation. Mutation analysis of the whole group revealed that 15 (22%) patients were heterozygous for one of the screened MEFV mutations, while three (4.5%) patients were compound heterozygous for two of the studied mutations, and one (1.5%) patient was homozygous for E148Q/E148Q mutations. Gastrointestinal and joint involvement, and edema were more frequently observed in patients with MEFV mutations, while ESR and CRP levels were significantly higher (P
- Published
- 2013