THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS

VARAN, Özkan; TUFAN, Abdurrahman; ATAŞ, Nuh; SATIŞ, Hasan; Kucuk, Hamit; Goker, Berna; BİLİCİ SALMAN, Reyhan; HAZNEDAROGLU, SEMINUR; BABAOĞLU, Hakan; öztürk, mehmet akif

THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS

Özkan VARAN, (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Hamit KÜÇÜK, (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Hakan BABAOĞLU, (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Nuh ATAŞ, (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Reyhan BİLİCİ SALMAN, (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Hasan SATIŞ, (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Mehmet Akif ÖZTÜRK, (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Seminur HAZNEDAROĞLU, (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Berna GÖKER, (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Abdurrahman TUFAN (Gazi Üniversitesi, Tıp Fakültesi, İç Hastalıkları Bölümü, Romatoloji Bilim Dalı, Ankara, Türkiye)

Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi

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Yıl: 2019 Cilt: 52 Sayı: 2 Sayfa Aralığı: 162 - 166 Metin Dili: İngilizce İndeks Tarihi: 04-11-2020

THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS

Öz:

INTRODUCTION: Familial Mediterranean Fever (FMF) isthe most common auto-inflammatory disease characterized byrecurrent attacks.FMF was found to be correlated with the mutationin MEFV gene. Patients with M694V homozygous mutation havebeen reported to have a more severe disease. However, there is noclear study of clinical correlation in other variants. In this study, weaimed to investigate the frequency and clinical correlation of MEFVgene variants.METHODS: Electronic medical records of FMF cohort wereretrospectively analyzed. FMF cohort was established in year 2010 andsince then all patients who fulfilled Tel-Hashomer criteria. Demographicinformation, attack characteristics, treatment information and MEFVgene outcomes of the patients were analysed using the records. InMEFV gene analysis, M694V, M694I, M680I, V726A, R761H, A744S,F479L, P369S, R202Q and E148Q variants are evaluated.RESULTS: A total of 605 patients were included in the study. Inpatients who had M694V mutation, arthritis and erysipelas wereobserved more frequently (p=0.04, p=0.008).Increased familyhistory of FMF was identified in patients with M694V mutation(p<0.001). In patients with M694V mutation, it was found that ageof onset of FMF symptoms, age of diagnosis, and age of treatmentinitiation were younger (p=0.003, p=0.014, p=0.025). In patients withM694Vhomozygous, frequency of amyloidosis was higher (p<0.001).The risk of developing amyloidosis was higher in M694Vhomozygous(Odds ratio 7.46, 95% confidence interval: 2.92-19.05).CONCLUSIONS: In conclusion, homozygous M694V mutationleads to severe disease. There was no clinical variability in otherMEFV gene variants

Anahtar Kelime:

AİLEVİ AKDENİZ ATEŞİ HASTALARINDA MEFV VARYANTLARI VE KLİNİK KORELASYONLARI

Öz:

AMAÇ: Ailesel Akdeniz Ateşi (FMF), tekrarlayan ataklarla karakterize en sık görülen oto-enflamatuar hastalıktır. MEFV genindeki mutasyonun FMF’e neden olduğu saptanmışır. M694V homozigot mutasyonu olan hastaların daha ciddi hastalığı olduğu bildirilmiştir. Ancak, diğer MEFV gen varyantların klinik korelasyonu ile ilgili net bir çalışma yoktur. Bu çalışmada, MEFV gen varyantlarının sıklığı ve klinik korelasyonunun araştırılması amaçlanmıştır. METOD: FMF kohortunun elektronik tıbbi kayıtları retrospektif olarak incelendi. Tel-Hashomer kriterlerine göre tanı konulan FMF hastalarının demografik bilgileri, atak özellikleri, tedavi bilgileri ve MEFV gen sonuçları hastaların kayıtları kullanılarak analiz edildi. MEFV gen analizinde, M694V, M694I, M680I, V726A, R761H, A744S, F479L, P369S, R202Q ve E148Q varyantları değerlendirildi. BULGULAR: Çalışmaya toplam 605 hasta dahil edildi. M694V mutasyonu olan hastalarda artrit ve erizipel daha sık gözlendi (p = 0.04, p = 0.008). M694V mutasyonu olan hastalarda artmış aile FMF öyküsü saptandı (p <0.001). M694V mutasyonu olan hastalarda FMF semptomlarının başlama yaşı, tanı yaşı ve tedavi başlama yaşının daha genç olduğu bulundu (p = 0.003, p = 0.014, p = 0.025). M694V homozigozlu hastalarda amiloidoz sıklığı daha yüksekti (p <0.001). M694V homozigozda amiloidoz gelişme riski daha yüksekti (Oran oranı 7.46, % 95 güven aralığı: 2.92-19.05). SONUÇ: Sonuç olarak, homozigot M694V mutasyonu şiddetli hastalığa yol açmaktadır. Diğer MEFV gen varyantları ile klinik arasında anlamlı ilişki saptanamadı.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	VARAN Ö, Kucuk H, BABAOĞLU H, ATAŞ N, BİLİCİ SALMAN R, SATIŞ H, öztürk m, HAZNEDAROGLU S, Goker B, TUFAN A (2019). THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. , 162 - 166.
Chicago	VARAN Özkan,Kucuk Hamit,BABAOĞLU Hakan,ATAŞ Nuh,BİLİCİ SALMAN Reyhan,SATIŞ Hasan,öztürk mehmet akif,HAZNEDAROGLU SEMINUR,Goker Berna,TUFAN Abdurrahman THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. (2019): 162 - 166.
MLA	VARAN Özkan,Kucuk Hamit,BABAOĞLU Hakan,ATAŞ Nuh,BİLİCİ SALMAN Reyhan,SATIŞ Hasan,öztürk mehmet akif,HAZNEDAROGLU SEMINUR,Goker Berna,TUFAN Abdurrahman THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. , 2019, ss.162 - 166.
AMA	VARAN Ö,Kucuk H,BABAOĞLU H,ATAŞ N,BİLİCİ SALMAN R,SATIŞ H,öztürk m,HAZNEDAROGLU S,Goker B,TUFAN A THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. . 2019; 162 - 166.
Vancouver	VARAN Ö,Kucuk H,BABAOĞLU H,ATAŞ N,BİLİCİ SALMAN R,SATIŞ H,öztürk m,HAZNEDAROGLU S,Goker B,TUFAN A THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. . 2019; 162 - 166.
IEEE	VARAN Ö,Kucuk H,BABAOĞLU H,ATAŞ N,BİLİCİ SALMAN R,SATIŞ H,öztürk m,HAZNEDAROGLU S,Goker B,TUFAN A "THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS." , ss.162 - 166, 2019.
ISNAD	VARAN, Özkan vd. "THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS". (2019), 162-166.

APA	VARAN Ö, Kucuk H, BABAOĞLU H, ATAŞ N, BİLİCİ SALMAN R, SATIŞ H, öztürk m, HAZNEDAROGLU S, Goker B, TUFAN A (2019). THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi, 52(2), 162 - 166.
Chicago	VARAN Özkan,Kucuk Hamit,BABAOĞLU Hakan,ATAŞ Nuh,BİLİCİ SALMAN Reyhan,SATIŞ Hasan,öztürk mehmet akif,HAZNEDAROGLU SEMINUR,Goker Berna,TUFAN Abdurrahman THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi 52, no.2 (2019): 162 - 166.
MLA	VARAN Özkan,Kucuk Hamit,BABAOĞLU Hakan,ATAŞ Nuh,BİLİCİ SALMAN Reyhan,SATIŞ Hasan,öztürk mehmet akif,HAZNEDAROGLU SEMINUR,Goker Berna,TUFAN Abdurrahman THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi, vol.52, no.2, 2019, ss.162 - 166.
AMA	VARAN Ö,Kucuk H,BABAOĞLU H,ATAŞ N,BİLİCİ SALMAN R,SATIŞ H,öztürk m,HAZNEDAROGLU S,Goker B,TUFAN A THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi. 2019; 52(2): 162 - 166.
Vancouver	VARAN Ö,Kucuk H,BABAOĞLU H,ATAŞ N,BİLİCİ SALMAN R,SATIŞ H,öztürk m,HAZNEDAROGLU S,Goker B,TUFAN A THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi. 2019; 52(2): 162 - 166.
IEEE	VARAN Ö,Kucuk H,BABAOĞLU H,ATAŞ N,BİLİCİ SALMAN R,SATIŞ H,öztürk m,HAZNEDAROGLU S,Goker B,TUFAN A "THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS." Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi, 52, ss.162 - 166, 2019.
ISNAD	VARAN, Özkan vd. "THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS". Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi 52/2 (2019), 162-166.