TY - JOUR T1 - R202Q gen değişikliğinin ailesel akdeniz ateşi kliniği üzerine etkisi: tek merkez deneyimi TT - The effects of R202Q genotype on the clinical features of familial mediterranean fever: single center experiences AU - Türkuçar, Serkan AU - Adıgüzel, Hatice AU - Yılmaz, Ceren AU - Ünsal, Erbil PY - 2021 DA - October Y2 - 2021 DO - 10.31362/patd.885049 JF - Pamukkale Medical Journal JO - Pam Tıp Derg PB - Pamukkale University WT - DergiPark SN - 1308-0865 SP - 870 EP - 877 VL - 14 IS - 4 LA - tr AB - 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. KW - MEFV mutasyonu KW - Ekzon-2 KW - Ailesel Akdeniz Ateşi KW - R202Q CR - 1. Özen S. Update on the epidemiology and disease outcome of Familial Mediterranean fever. Best Pract Res Clin Rheumatol 2018;32:254-260. https://doi.org/10.1016/j.berh.2018.09.003 CR - 2. Özen S, Batu ED, Demir S. Familial Mediterranean Fever: recent developments in pathogenesis and new recommendations for management. Front Immunol 2017;8:253. https://doi.org/10.3389/fimmu.2017.00253 CR - 3. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell 1997;90:797-807. https://doi.org/10.1016/s0092-8674(00)80539-5 CR - 4. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31. https://doi.org/10.1038/ng0997-25 CR - 5. Infevers genetical database. Available at: https:// https://infevers.umai-montpellier.fr/web/search.php?n=1. Accessed Jan 14, 2021 CR - 6. Yaşar Bilge Ş, Sarı İ, Solmaz D, et al. The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia. Turk J Med Sci 2019;49:472-477. https://doi.org/10.3906/sag-1809-100 CR - 7. Celep G, Durmaz ZH, Erdogan Y, Akpinar S, Kaya SA, Guckan R. The Spectrum of MEFV gene mutations and genotypes in the Middle Northern Region of Turkey. Eurasian J Med, 2019;51:252-256. https://doi.org/10.5152/eurasianjmed.2019.18396 CR - 8. Akin H, Onay H, Turker E, Cogulu O, Ozkinay F. MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. Mol Biol Rep, 2010;37:93-98. https://doi.org/10.1007/s11033-009-9543-1 9. Akpolat T, Özkaya O, Özen S. Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. Gene 2012;492:285-289. https://doi.org/10.1016/j.gene.2011.10.012 CR - 10. Lidar M, Yonath H, Shechter N, et al. Incomplete response to colchicine in M694V homozygote FMF patients. Autoimmun Rev, 2012;12:72-76. https://doi.org/10.1016/j.autrev.2012.07.025 CR - 11. Akpolat T, Yilmaz E, Ozen S, Akpolat I, Danaci M, Kandemir B. M680I(Arm2)/M694V(Med) mutations in a patient with familial Mediterranean fever and polyarteritis nodosa. Nephrol Dial Transplant, 1998;13:2633-2635. https://doi.org/10.1093/ndt/13.10.2633 CR - 12. Bernot A, da Silva C, Petit JL, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 1998;7:1317-1325. https://doi.org/ 10.1093/hmg/7.8.1317 CR - 13. Ritis K, Giaglis S, Spathari N, et al. Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients. Ann Rheum Dis 2004:63:438-443. https://doi.org/10.1136/ard.2003.009258 CR - 14. Ozturk A, Ozcakar B, Ekim M, Akar N. Is MEFV gene Arg202Gln (605 G>A) A disease-causing mutation? Turk J Med Sci 2008;38:205-208. CR - 15. Yigit S, Karakus N, Tasliyurt T, Uzun Kaya S, Bozkurt N, Kisacik B. Significance of MEFV gene R202Q polymorphismin Turkish familial Mediterranean fever patients. Gene 2012;506:43-45. https://doi.org/10.1016/j.gene.2012.06.074 CR - 16. Infevers genetical database. Available at: https:// https://infevers.umai-montpellier.fr/web/detail_mutation.php (Accessed Jan 14, 2021.) CR - 17. Yalçinkaya F, Ozen S, Ozçakar ZB, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 2009;48(4):395-398. https://doi.org/10.1093/rheumatology/ken509 CR - 18. Nevzi O, Günöz H, Furman A, et al. Türk çocuklarında vücut ağırlığı, boy uzunluğu, baş çevresi ve vücut kitle indeksi referans değerleri. Çocuk Sağlığı ve Hastalıkları Dergisi 2008;51:1-14. CR - 19. Pras E, Livneh A, Jr Balow JE, et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet 1998;13;75(2):216-219. https://doi.org/10.1002/(sici)1096-8628(19980113)75:2 <216::aid-jmg20>3.0.co;2-r CR - 20. Sönmezgöz E, Özer S, Gül A, et al. Clinical and demographic evaluation according to MEFV genes in patients with familial mediterranean fever. Biochem Genet 2019;57:289-300. https://doi.org/ 10.1007/s10528-018-9889-y CR - 21. Kirectepe AK, Kasapcopur O, Arisoy N, et al. Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever. BMC Med Genet 2011;12:105. https://doi.org/10.1186/1471-2350-12-105 CR - 22. Comak E, Akman S, Koyun M, et al. Clinical evaluation of R202Q alteration of MEFV genes in Turkish children. Clin Rheumatol 2014;33:1765-1771. https://doi.org/10.1007/s10067-014-2602-6 CR - 23. Milenković J, Vojinović J, Debeljak M, et al. Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation. Pediatr Rheumatol Online J 2016;14:39. https://doi.org/10.1186/s12969-016-0097-1 CR - 24. Bayram MT, Çankaya T, Bora E, et al. Risk factors for subclinical inflammation in children with Familial Mediterranean fever. Rheumatol Int 2015;35:1393-1398. https://doi.org/10.1007/s00296-015-3227-z CR - 25. Özer S, Yılmaz R, Sönmezgöz E, et al. Simple markers for subclinical inflammation in patients with Familial Mediterranean Fever. Med Sci Monit 2015;21:298-303. https://doi.org/10.12659/MSM.892289 CR - 26. Balkarli A, Akyol M, Tepeli E, Elmas L, Cobankara V. MEFV gene variation R202Q is associated with metabolic syndrome. Eur Rev Med Pharmacol Sci 2016;20:3255-3261. CR - 27. Fentoğlu Ö, Dinç G, Bağcı Ö, et al. R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever. J Periodontal Res 2017;52:994-1003. https://doi.org/10.1111/jre.12467 UR - https://doi.org/10.31362/patd.885049 L1 - https://dergipark.org.tr/en/download/article-file/1595169 ER -