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Journals / Uludağ Üniversitesi Tıp Fakültesi Dergisi / 2024 / Cilt: 50 Sayı: 1

Clinical and Laboratory Reflection of Mutation Positivity at the Exon 10 Position in Patients with Familial Mediterranean Fever

Ailevi Akdeniz Ateşi Tanısı Olan Hastalarda Ekzon 10 Lokasyonunda Mutasyon Pozitifliğinin Klinik ve Laboratuvar Yansıması

Tuğba Ocak(Bursa Uludağ Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Romatoloji Bilim Dalı, Bursa.)0000-0002-4560-1569
Ahmet Görünen(Bursa Uludağ Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Bursa.)0000-0002-7745-8226
Burcu Yağız(Bursa Uludağ Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Romatoloji Bilim Dalı, Bursa.)0000-0002-0624-1986
Belkıs Nihan Coşkun(BURSA ULUDAĞ ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, İÇ HASTALIKLARI ANABİLİM DALI, ROMATOLOJİ BİLİM DALI)0000-0003-0298-4157
Şebnem Özemri Sağ(Bursa Uludağ Üniversitesi Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, Bursa.)0000-0002-3948-8889
Hüseyin Ediz Dalkılıç(Bursa Uludağ Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Romatoloji Bilim Dalı, Bursa.)0000-0001-8645-2670
Yavuz Pehlivan(Bursa Uludağ Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Romatoloji Bilim Dalı, Bursa.)0000-0002-7054-5351
Pages
29–33
Publication Date
2024-05-17
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Clinical and laboratory features differ in patients with a positive mutation in exon 10, and close monitoring of these patients can reduce disease-related complications.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever and serositis due to mutations in the 10-exon Mediterranean Fever (MEFV) gene.
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Key Findings & Data:Mutation positivity at the exon 10 site is associated with the typical clinical phenotype and disease complications such as amyloidosis and renal failure.
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Conclusion & Impact:Clinical and laboratory features differ in patients with a positive mutation in exon 10, and close monitoring of these patients can reduce disease-related complications.
🔬Design:Araştırma Makalesi
📍Scope:2015 Verileri
⚙️Variables:Ailevi Akdeniz Ateşi · Ekzon 10 · Erkek cinsiyet

Abstract

Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever and serositis due to mutations in the 10-exon Mediterranean Fever (MEFV) gene. Mutation positivity at the exon 10 site is associated with the typical clinical phenotype and disease complications such as amyloidosis and renal failure. In our study, we aimed to determine the relationship between the presence of a mutation in the 10th exon and the clinical features and complications. The files of 354 patients who were followed up in the rheumatology clinic of our hospital between January 2015 and August 2023 with a diagnosis of FMF were analyzed retrospectively. The patients were divided into two groups depending on the presence of a mutation in exon 10. Male sex ratio, abdominal pain, frequency of amyloidosis, creatinine, neutrophil and c-reactive protein levels in the attack-free period were significantly higher in the group with positive mutation in exon 10 (p=0.044, p=0.039, p<0.001, p=0.028, p=0.015, p=0.030, respectively). Clinical and laboratory features differ in patients with a positive mutation in exon 10, and close monitoring of these patients can reduce disease-related complications.

Özet

Ailevi Akdeniz Ateşi (AAA) 10 ekzondan oluşan Mediterranean Fever (MEFV) geninde meydana gelen mutasyonlar sonucu tekrarlayan ateş ve serözit ataklarıyla seyreden otoinflamatuar bir hastalıktır. Ekzon 10 lokasyonunda mutasyon pozitifliği tipik klinik fenotiple ve amiloidoz, böbrek yetmezliği gibi hastalık komplikasyonlarıyla ilişkilidir. Çalışmamızda 10. ekzonda mutasyon varlığının klinik özellikler ve komplikasyonlar ile ilişkisini saptamayı amaçladık. Hastanemiz romatoloji kliniğinde Ocak 2015-Ağustos 2023 tarihleri arasında AAA tanısı ile takip edilen 354 hastanın dosyası retrospektif olarak incelendi. Hastalar ekzon 10 lokasyonunda mutasyon bulunma durumuna göre iki gruba ayrıldı. Ekzon 10’da mutasyon pozitifliği olan grupta erkek cinsiyet oranı, karın ağrısı, amiloidoz görülme sıklığı, ataksız dönemdeki kreatinin, nötrofil ve c-reaktif protein değerleri anlamlı olarak daha yüksek saptandı (sırasıyla p=0,044, p=0,039, p<0.001, p=0,028, p=0,015, p=0,030). Ekzon 10 lokasyonunda mutasyon pozitifliği olan hastalarda klinik ve laboratuvar özellikler farklılık göstermekte olup, bu hastaların yakın takip edilmesi ile hastalıkla ilişkili kompikasyonlar azaltılabilir.

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Cite This Article

Ocak, T., Görünen, A., Yağız, B., Coşkun, B. N., Sağ, Ş. Ö., Dalkılıç, H. E., Pehlivan, Y., *, T. O. (2024). Clinical and Laboratory Reflection of Mutation Positivity at the Exon 10 Position in Patients with Familial Mediterranean Fever. Uludağ Üniversitesi Tıp Fakültesi Dergisi, Cilt: 50 Sayı: 1, 29–33. https://doi.org/10.32708/uutfd.1410535

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