تب مدیترانه ای فامیلی و بیماریهای همراه ان، گزارش سری موردی

صالح زاده, فرهاد (1394) تب مدیترانه ای فامیلی و بیماریهای همراه ان، گزارش سری موردی. International Journal of Advances In Case Reports ــ 2 (9). pp. 592-597. شاپا 2349 - 8005

Text - Published Version

Official URL: http://mcmed.us/dart/abstract/679/ijacr



English Abstract

FMF is an auto inflammatory disease mainly associated with MEFV gene mutations. Until recently, the MEFV gene was considered to be responsible only for FMF. However, it is now known that it can also be associated with other clinical conditions. This study represents FMF-associated disease among our FMF clinic patients. 400 patients who had FMF based on the clinical and or MEFV gene study enrolled to study. Patients if needed were analyzed for the 12 most common MEFV mutations (P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) by a reverse hybridization assay. Any co-existed disease was confirmed by related subspecialist team. Among the patients Fifty two (13%) had associated disease.28 patients were male and 23 patients were under ten years old. Five patients had no MEFV mutations and overall, there were 82 MEFV gene mutations. The most common were M694V (30%), E148Q (22%), V726A (17%), M680I (1%) and M694I (0.07%) respectively. Rheumatologic disorders were the most common co-exist disease, then followed by GI and CNS disorder. Some rare disease such as TTP, Growth hormone deficiency, MS, ascitis and leiden factor V deficiency have been shown. This homozygote mutations (M694V-M694V) were associated with ascitis, orchitis and pericarditis. Associated disease in FMF usually presents in patients with MEFV gene mutations particularly with these five mutations M694V, E148Q, V726A, M680I, and M694I. Rheumatologic, gastrointestinal and CNS disorders are common co-existed disease.

Item Type:Article
زبان سند : انگلیسی
نویسنده مسئول :فرهاد صالح زاده
Additional Information:indexing in: Google Scholar , DOAJ , Index Copernicus International , Proquest , Science central , Cross Ref , Jadoun Science Journal Access Directory , American Association of Pharmaceutical Scientists (AAPS) , Hinari Scientific Indexing Services , Research gate , Worldcat Journalseek , Directory of research journals indexing , Slideshare , Docstoc , Academia , J-GATE , linkedin , Globalimpactfactor , Pubicon Science Index , Pak Academic Search
کلیدواژه ها (انگلیسی):Familial Mediterranean fever, MEFV gene, Coexist disease, Associated condition.
Subjects:WB Practice of Medicine
WI Digestive System
WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:6641
Deposited By: MS Soghra Golmaghani
Deposited On:05 Feb 1394 03:25
Last Modified:05 Feb 1394 03:51

Repository Staff Only: item control page

Document Downloads

More statistics for this item...