Ailevi Akdeniz ateşi tanısı alan 186 olgunun klinik semptom ve MEFV geni mutasyonlarının incelenmesi

Objective: This retrospective study aimed to evaluate the\udclinical symptoms and the MEFV mutation ratios of the\ud186 patients diagnosed as Familial Mediterranean Fever.\udMethods: Age, sex, admission symptoms, family history,\udand the MEFV mutation test cases of the 186 patients\udfollowed as Familial Mediterranean Fever were evaluated\udretrospectively. MEFV gene was analyzed with DNA sequence\udanalysis after amplifying the exons 1.-10. using\udPCR method.\udResults: There were 84 male and 102 female in the study,\udand the mean age was 9.45 ± 4.40 years. 26.9% of the\udpatients had close relationship between the parents, and\ud25.8% had a family history of AAA. The most common\udsymptoms were abdominal pain (92.5%), fever (89.2%),\udand arthralgia (24.2%) respectively. The most common\udmutations were R202Q (33.3%), M694V (22.6%), E148Q\ud(22%), V726A (7.5%), R761H (4.3%), M680I (3.8%),\udand the others (6.5%) respectively. 21.5% homozygous,\ud67.7% heterozygous, and 10.8% compound heterozygous\udmutations of AAA were detected.\udConclusion: FMF is a common disease in our country\udand has difficulties in the differential diagnosis. In recent\udyears molecular genetically methods are considered\udmore commonly for the diagnosis. The results of this\udstudy showed that our AAA patients have a wide range\udof mutations, and supported the heterogeneity of MEFV\udgene mutations in AAA