The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey
 
Yazarlar (9)
Aydin Ece
Dicle University, Faculty Of Medicine, Türkiye
Erdal Cakmak Sevgi Hospital, Türkiye
Unal Uluca
Dicle University, Faculty Of Medicine, Türkiye
Selvi Kelekci Dicle University, Faculty Of Medicine, Türkiye
Ilyas Yolbas Dicle University, Faculty Of Medicine, Türkiye
Prof. Dr. Ali GÜNEŞ Dicle University, Faculty Of Medicine, Türkiye
Servet Yel Dicle University, Faculty Of Medicine, Türkiye
Ilhan Tan Dicle University, Faculty Of Medicine, Türkiye
Velat Sen Dicle University, Faculty Of Medicine, Türkiye
Makale Türü Özgün Makale (SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
Dergi Adı Rheumatology International
Dergi ISSN 0172-8172 Wos Dergi Scopus Dergi
Dergi Tarandığı Indeksler SSCI
Makale Dili İngilizce Basım Tarihi 02-2014
Kabul Tarihi 12-04-2026 Yayınlanma Tarihi 26-09-2013
Cilt / Sayı / Sayfa 34 / 2 / 207–212 DOI 10.1007/s00296-013-2858-1
Makale Linki http://link.springer.com/10.1007/s00296-013-2858-1
Özet
The aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded. Clinical manifestations and disease severity scores were recorded. The six most frequent MEFV mutations including M694V, V726A, R726H, P369S, E148Q and P369S were investigated by a reverse hybridization test method. The median age of study group was 9.0 years, median age at diagnosis was 7.8 years, median age at disease onset was 5.0 years, and median follow-up duration was 4.0 years. A positive family …
Anahtar Kelimeler
Clinical findings | Familial Mediterranean fever | MEFV gene | Mutations | Southeast Turkey
BM Sürdürülebilir Kalkınma Amaçları
Atıf Sayıları
Google Scholar 79
Scopus 5
Web of Science 42
The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey

Paylaş