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

Öz

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.

Anahtar Kelimeler

• Ailevi Akdeniz Ateşi
• Ekzon 10
• Erkek cinsiyet
• Amiloidoz

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

Öz

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.

Anahtar Kelimeler

• Familial Mediterranean Fever
• Exon 10
• Male gender
• Amyloidosis

Kaynakça

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