Surgery for acute abdomen and MEFV mutations in patients with FMF
Yazarlar (6)
Prof. Dr. Hale Şamli Bursa Uludağ Üniversitesi, Türkiye
Doç. Dr. Fadime Mutlu Içduygu Afyon Kocatepe Üniversitesi, Türkiye
Doç. Dr. Asuman ÖZGÖZ Afyon Kocatepe Üniversitesi, Türkiye
Gökhan Akbulut Afyon Kocatepe Üniversitesi, Türkiye
Kuya̧ Hekimler
Afyon Kocatepe Üniversitesi, Türkiye
Afyon Kocatepe Üniversitesi, Türkiye
Necat Imirzalioǧlu Afyon Kocatepe Üniversitesi, Türkiye
| Makale Türü | Özgün Makale (SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale) | ||
| Dergi Adı | Acta Reumatologica Portuguesa (Q4) | ||
| Dergi ISSN | 0303-464X Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 01-2009 |
| Cilt / Sayı / Sayfa | 34 / 3 / 520–524 | DOI | – |
| UAK Araştırma Alanları |
Tıbbi Genetik
|
||
| Özet |
| Objectives: Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever, peritonitis, arthritis, pleuritis, and secondary amyloidosis. In the current study, we sought to determine the frequency of acute surgical abdominal intervention and MEFV gene mutations in FMF patients. Patients and Methods: A total of 159 patients were referred to our department with a diagnosis of FMF. Twenty-six patients (16.4%) had a history of surgical intervention. Of these, 17 (10.7%) were operated on due to appendicitis, and 9 (5.7%) were operated on due to other acute abdomen reasons. Genomic DNA was isolated from the blood samples, and in the isolated DNA samples, 12 MEFV gene mutations were studied. Results: Mutation frequency was detected to be 80.8% in the patients with acute abdomen surgery intervention and 56.4% in the patients without acute abdomen surgical intervention. Upon mutational evaluation of these patients, we noted that the M694V (40.5%) and E148Q (21.4%) mutations occurred most frequently. Conclusions: The MEFV gene mutation frequency in FMF patients with acute abdomen surgical intervention was significantly higher than that in patients without such intervention. Increased mutation scanning in FMF patients will significantly decrease unnecessary surgical interventions in this patient group. |
| Anahtar Kelimeler |
| Acute abdomen | FMF | Genetic mutations |
