Özet:

Family Mediterranean Fever (AAA) is the most common hereditary autoinflammatory disease characterized by repeated fever attacks accompanied by peritonitis, pluritis and arthritis. This study aims to evaluate the distribution of MEFV gen mutations in a large group of patients from a single center and to compare with other studies in different regions of Turkey. In this study, the demographic and clinical information of the 1113 patients who are suspicious of FMF and applying to the pediatric genetic and medical genetic clinics of the city state hospital, MEFV mutation reports and molecular test methods were examined retrospective. Results: at 854 patients (76.7%) there was at least one mutation in MEFV, while at 259 patients (23.3%) there was no mutation. Of 854 patients, 394 (46.1%) were heterozigot, 63 (7%). 4) the homozigot had 240 (28.1%) compound heterozigot and 157 (18.4%) complex genotype. There were 31 different mutations and a total of 1507 mutations. The five most common mutations were R202Q, M694V, E148Q, M608I and P369S. 777 patients (91%) were subjected to MEFV series analysis, while 77 patients (9%) were subjected to strip analysis. The most common mutation was M694V (45.9 percent), while the most common mutation was R202Q (38.3 percent) and the most common mutation was MEFV exon (23.5 percent). The result: in our study, different results have been shown from previous studies in Turkey. In our study, the mutation detection rate was high and P369S was one of the most common mutations. According to the method used to detect MEFV variants, mutation frequencies may differ between studies.

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