Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever
Yazarlar (8)
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Türkiye
Prof. Dr. Ali GÜL
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Selçuk Üniversitesi, Türkiye
Doç. Dr. Tuba KASAP
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Ondokuz Mayıs Üniversitesi, Türkiye
Dr. Öğr. Üyesi Osman DEMİR
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale |
| Dergi Adı | BIOCHEMICAL GENETICS |
| Dergi ISSN | 0006-2928 Wos Dergi Scopus Dergi |
| Dergi Tarandığı Indeksler | SCI |
| Makale Dili | Türkçe |
| Basım Tarihi | 04-2019 |
| Cilt No | 57 |
| Sayı | 2 |
| Sayfalar | 289 / 300 |
| DOI Numarası | 10.1007/s10528-018-9889-y |
| Özet |
| The present study examined the relationship between clinical findings and mutation analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region of Turkey. This retrospective, cross-sectional study included patients with FMF who were evaluated between 2007 and 2015. FMF was diagnosed according to the Tel Hashomer criteria. FMF mutations were analyzed using a Real-time PCR System (Roche Diagnostics, Mannheim, Germany), and patients were classified into three groups according to allele status. The most common symptom was abdominal pain (99%, n = 197). The most frequent mutations were M694V and R202Q. Chest pain was reported more often in patients homozygous for M694V (61.4%). Although fever, abdominal pain, and arthritis were more commonly observed with the M694V mutation, chest pain was the most common symptom in R202Q carriers (n = 10, 32.3%). Proteinuria was observed in 42 (21.2%) patients, frequently accompanied by the M694V mutation (28.6%). The most common mutations in children with FMF in Turkey were M694V and R202Q. Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations. Moreover, chest pain was commonly seen with the R202Q mutation. Thus, R202Q might be a disease-causing mutation in FMF patients. |
| Anahtar Kelimeler |
| Clinical features | Familial Mediterranean Fever | MEFV gene | R202Q |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| WoS | 26 |
| Google Scholar | 38 |