The effects of R202Q genotype on the clinical features of familial mediterranean fever: single center experiences

Year 2021, Volume: 14 Issue: 4, 870 - 877, 01.10.2021

Serkan Türkuçar , Hatice Adıgüzel Ceren Yılmaz Erbil Ünsal

https://doi.org/10.31362/patd.885049

Abstract

R202Q gen değişikliğinin ailesel akdeniz ateşi kliniği üzerine etkisi: tek merkez deneyimi

Abstract

Amaç: Ailesel Akdeniz ateşinin kliniğinde görülen tekrarlayan febril poliserozit atakları, MEFV genindeki mutasyonlara bağlı kontrolsüz interlökin 1-β salınımından kaynaklanmaktadır ve hastalığın seyri mutasyonlara göre değişkenlik gösterebilmektedir. Bu çalışmada R202Q gen değişiminin klinik ve laboratuvar bulguları üzerindeki etkisinin değerlendirmesi amaçlanmıştır.
Gereç ve yöntem: 122 pediatrik AAA hastasının demografik, klinik ve laboratuvar verileri kıyaslanmıştır. Hastalar MEFV mutasyonlarına göre R202Q değişimini heterozigot, homozigot, ekzon-10 mutasyonları ile bileşik heterozigot bulunduranlar ve sadece ekzon-10 mutasyonu bulunduranlar olarak gruplandırılarak karşılaştırılmıştır.
Bulgular: Demografik, antropometrik, klinik ve laboratuvar bulgular açısından değerlendirildiğinde, gruplar arasında herhangi bir istatistiksel anlamlı fark saptanmamıştır.
Sonuç: R202Q gen değişikliğine sahip hastalarda da ekzon 10 mutasyonlu hastalar gibi tipik AAA klinik bulguları gözlenebilmektedir. Ailesel Akdeniz ateşi, genotipik ve fenotipik özelliklerinin birlikte değerlendirilmesi gereken bir hastalıktır.

Keywords

MEFV mutasyonu, Ekzon-2, Ailesel Akdeniz Ateşi, R202Q

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