Exon 2: Is It The Good Police In Familial Mediterranean Fever?
![](/xmlui/themes/Mirage2//images/mime2.png)
Göster/ Aç
Tarih
2019Yazar
Bilge, Sule Yasar
Solmaz, Dilek
Senel, Soner
Emmungil, Hakan
Kilic, Levent
Oner, Sibel Yilmaz
Yidiz, Fatih
Yilmaz, Sedat
Bozkirli, Duygu Ersozlu
Tufan, Muge Aydin
Yilmaz, Sema
Yazisiz, Veli
Pehlivan, Yavuz
Bes, Cemal
Cetin, Gozde Yildirim
Erten, Sukran
Gonullu, Emel
Sahin, Fezan
Akar, Servet
Aksu, Kenan
Kalyoncu, Umut
Direskeneli, Haner
Erken, Eren
Kisacik, Bunyamin
Sayarlioglu, Mehmet
Cinar, Muhammed
Kasifoglu, Timucin
Sari, Ismail
Üst veri
Tüm öğe kaydını gösterÖzet
Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n: 1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome.