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, vol.44, no.1, pp.33-38, 2022 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.14744/etd.2021.15579
  • Journal Name: ERCIYES MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Academic Search Premier, CAB Abstracts, EMBASE, Veterinary Science Database, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.33-38
  • Keywords: Arthritis, exon-2, familial Mediterranean fever, MEFV mutations, severity score
  • Open Archive Collection: AVESIS Open Access Collection
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.