MEVF mutations and treatment response in the investigation Mediterranean fever patients in childhood in Düzce

The Investigation of FMF Cases Who MEFV Mutations Clinical Findines and Response To nTreatment In Childhood In Duzce Familial Mediterranean fever, recurrent fever accompanied with abdominal, chest, joint pain and arthritis, inflammation of the serous membranes, such as attacks on the disease. Gene mutations associated with the disease has been shown in different genotypes and concluded that ethnic groups may follow a different pattern. In this study, Tel-Hashomer criteria for AAA was diagnosed as positive for gene mutation in patients with childhood in Düzce (33 patients), the types of mutations in the MEFV (R202Q, M694V, E148Q) were evaluated by the clinical features and response to colchicine treatment. Clinical history and clinical characteristics, the family AAA relationship between mother and father, symptom, age, age at diagnosis, and duration of fever, abdominal pain, frequency and duration of headaches, conjunctivitis, constipation, diarrhea, myalgia, arthralgia, and duration of erythema, arthritis and duration of the involved joints and response to colchicine treatment were recorded. Patients are cared for during the episode count, C-reactive protein, erythrocyte sedimentation rates were evaluated. Included in the study of AAA 33 patients , 18 girls (55%) and 15 men (45%), respectively. R202Q mutation (heterozygous) was identified in 12 out of 17 patients (70.6%) were female and 5 (29.4%) were male. The M694V mutation was detected in 3 out of 10 patients (30.0%) were female and seven (70.0%) of them were male. The M694V mutation was detected in 2 out of the 10 patients homozygous. E148Q mutation (heterozygous) identified in 3 out of 6 patients (50.0%) were female and 3 (50.0%) of them were male. Treatment of clinically diagnosed with AAA, AAA gene mutation negative but there are outpatient clinic follow-up, 13 patients were excluded from the study. Positive family history in patients with homozygous M694V mutation was significantly higher than R202Q and E148Q mutations. Other clinical features and response to therapy in terms R202Q, E148Q and M694V mutation showed no significant difference among patients with mutation types.