Exon-2 Genotypes May Explain Typical Clinical Features of Familial Mediterranean Fever with Milder Disease Activity

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TÜRKUÇAR S., ADIGÜZEL DUNDAR H., KOYUNCUOĞLU YILMAZ C., Unsal E.

ERCIYES MEDICAL JOURNAL, cilt.44, sa.1, ss.33-38, 2022 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.14744/etd.2021.15579
  • Dergi Adı: ERCIYES MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Academic Search Premier, CAB Abstracts, EMBASE, Veterinary Science Database, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.33-38
  • Anahtar Kelimeler: Arthritis, exon-2, familial Mediterranean fever, MEFV mutations, severity score
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Objective: Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disease worldwide. The diagnosis is primarily clinical, based on severity of the disease, and confirmed by mutations of the MEFV gene. The aim of this study was to evaluate the effect of exon-2 genotypic variants on clinical signs and symptoms and the severity of FMF in children in comparison with those with an exon-10 genotypic variant.