Abstract:

Objective: Investigation of the frequency and the distribution of the MEFV gene mutations according to age, sex and numbers of mutations in patients with Familial Mediterranean Fever (AAA) pre-diagnosis in Balikesir region. Methods: The mutation analysis results of AAA pre-diagnosed patients who applied to our hospital between the August 2013 and April 2017 were evaluated retrospectively. The distributions of the mutations according to the gender and age of the patients were also evaluated. Analyzed MEFV mutations were as follows: E148Q in exon 2, P369S in exon 3 and M694V, M680I, M694I, V726A, R761H and K695R in exon 10. Results: Total number of the patients enrolled to the study was 207. 116 (55.76%) of them were female and 91 (44.24%) were male. The frequencies of the MEFV gene mutations were found as 36.20% in females and as 46.15% in males. The mean patient age was 21.76 ± 15.42 (range 2-66). The overall frequency of mutations found as 40.57%. According to sex distribution, there was 36.20% in females and 46.15% in males. Conclusion: In our study, the frequency of MEFV gene mutation in patients who had AAA mutation analysis in Balikesir Region was found as 40.57%.

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