FMF hastalarındaki MEFV gen mutasyon sıklığı ve mutasyonların dağılımı: Tek bir merkezden geniş bir hasta grubunun analizi

Familial Mediterranean fever (FMF) is a non-infectious inflammatory disease characterized by recurrent episodes of fever and serositis. The clinical findings of FMF and the frequency of MEFV gene mutations vary according to ethnic groups and countries. In this study, we retrospectively analyzed the clinical findings and MEFV gene mutation frequencies of 1835 patients diagnosed with FMF. MEFV gene mutation analysis was performed using Real Time PCR method and the most common 6 mutations related to the disease were examined. 77.33% of the patients were male and 22.67% were female. M694V, M680I, E148Q, V726A, R761H, and M694I alleles were the most common mutations in the MEFV gene, while abdominal pain, joint pain, recurrent fever and joint swelling were the most common clinical manifestations.