Konya bölgesindeki ailevi Akdeniz ateşli olguların değerlendirilmesi: Klinik ve genetik çalışma

Amaç: Bu çalışmanın amacı, Konya bölgesinde yaşayan ailevi Akdeniz ateş (AAA)’li hastalarda sıklıkla rastlandığı bilinen 8 mutasyonun ve ateş, karın ağrısı, eklem ağrısı, göğüs ağrısı gibi klinik bulguların sıklıklarını belirleyerek, bu sonuçların ülkemiz ve diğer ırkların verileri ile karşılaştırılmasını yapmaktır. Yöntem: Bu çalışmada Konya il merkezi ve çevresindeki ilçelerde yaşayan, Selçuk Üniversitesi Meram Tıp Fakültesi Çocuk Nefroloji bölümüne başvurup AAA tanısı alan 142 olgu retrospektif olarak değerlendirildi. MEFV geninde sıklıkla rastlandığı bildirilen 8 mutasyonun (M694V, M680I,E148Q,V726A, A744S, R202Q, R761H, T267I) sıklıkları ve bu mutasyonlar ile klinik yakınmalar arasındaki ilişki araştırıldı. Bulgular: Hastaların 122’sinde (% 85.9) mutasyon tespit edildi, bunların 69’unda (% 48.5) homozigot, 53’ünde (% 37.3) heterozigot mutasyon bulundu. Homozigot mutasyonların 52’sinde (% 36,6) M694V mutasyonu belirlendi. Klinik bulguların mutasyon tipine göre değerlendirilmesinde, M694V alleli taşıyan (heterozigot ya da homozigot) hastalarda diğer tüm mutasyon tiplerine göre eklem şikâyetleri anlamlı olarak daha sık bulundu. Ateş, karın, eklem ve göğüs ağrısı gibi yakınmalarının sıklığı, sırası ile % 94.4, % 96.5, % 44.4 ve % 21.8 olarak bulundu. Sonuç: Bölgemizdeki AAA hastalarında gerek mutasyon gerekse klinik yakınmalarının sıklığı ülkemizdeki çalışmaların sonuçlarına benzerlik göstermektedir.

The evaluation of patients with familial Mediterranean fever in Konya region: A retrospective clinic and genetic study

Objective: The aim of this study was to investigate frequency of eight mutations and percentages of fever, abdominal, joint and chest pain in familial Mediterranean fever (FMF) patients living in Konya region, and phenotype-genotype correlation, and compared to finding of other races and in Turkey. Methods: One hundred and forty two patients who were followed-up with the diagnosis of FMF in the Pediatric Nephrology Clinics of Medical Faculty of Selçuk University were evaluated retrospectively. Frequency of 8 mutations (M694V, M680I, E148Q, V726A, A744S, R202Q, R761H, T267I) and percentages of clinic features and phenotype-genotype correlations were examined. Results: It was seen that total 122 patients have mutation (85.9 %). Genetic analysis revealed that M694V/M694V was the most frequent mutation (36.6 %), and homozygote mutations in 69 patients (48.5 %), and (37.3 %) heterozygote mutations in 53 patients were found. Patients’ clinic features included fever (94.4 %), abdominal pain (96.5 %), arthritis and/or arthralgia (44.4 %) and pleuritis (21.8 %). Patients with the M694V genotype (heterozygote or homozygote) were found higher frequencies of arthritis and arthralgia compared with the other mutations Conclusion: Both mutations and frequency of clinical findings of FMF patients in our region, showed similarity that was found in previous research throughout Turkey.

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