صالح زاده, فرهاد ، انتشاری مقدم, افسانه (1399) بیماریهای همراه در بیماری تب مدیترانه ای فامیلی. Open Access Rheumatology: Research and Reviews ــ 2020 (12). ص.ص.65-71. شاپا 1179-156X
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آدرس اینترنتی رسمی : https://www.dovepress.com/coexisting-diseases-in-p...
عنوان انگليسی
Coexisting Diseases in Patients with Familial Mediterranean Fever
خلاصه انگلیسی
Background and Aims: Familial Mediterranean fever (FMF) is a prototype of autoin-flammatory disease and mainly associated with MEFV gene mutations. This single-center study as an experience represents FMF-coexisting disease in the FMF registration database. Methods: Four hundred patients who had FMF based on clinical criteria (Tel-Hashomer) and/or MEFV mutations enrolled the study. Twelve most common MEFV mutations (P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) were analyzed if needed by the reverse hybridization assay. Any co-existed disease had been confirmed by a related subspecialist. All data were analyzed by a simple analytical method. Results: Fifty-seven (14%) patients had associated disease, 32 patients were male and 24 patients were under 10 years old. They included 92 MEFV variant alleles and only in five patients there were not any mutations. The most common variant alleles were M694V (36%), E148Q (22%), V726A (17%), M680I (1%) and M694I (0.07%) respectively. Rheumatologic disorders were the most common coexisting disease, then followed by gastrointestinal and neurological disorders. Some rare diseases such as TTP, growth hormone deficiency, multiple sclerosis, idiopathic ascites, Leiden factor V deficiency and Felty syndrome have been detected. Homozygote mutations of (M694V-M694V) were associated with idiopathic ascites, orchitis and pericarditis. Conclusion: Coexisting disease in patients with FMF is presented with positive MEFV gene mutations particularly with these five common variant alleles: M694V, E148Q, V726A, M680I, and M694I. The commonly associated diseases are rheumatologic, gastrointestinal and CNS disorders. © 2020 Salehzadeh and Enteshari Moghaddam.
نوع سند : | مقاله |
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زبان سند : | انگلیسی |
نویسنده اول : | فرهاد صالح زاده |
نویسنده مسئول : | افسانه انتشاری مقدم |
ضریب تاثیر و نمایه مجلات: | Indexed in: Scopus, PubMed/PMC, ESCI, Embase, DOAJ |
کلیدواژه ها (انگلیسی): | familial mediterranean fever, MEFV mutation, FMF-coexisting disease |
موضوعات : | WC بیماریهای واگیر WS بیماریهای کودکان |
بخش های دانشگاهی : | دانشكده پزشكي > گروه اطفال ، پزشکی اجتماعی دانشكده پزشكي > گروه داخلی ، قلب ، عفونی |
کد شناسایی : | 13305 |
ارائه شده توسط : | خانم صغری گلمغانی |
ارائه شده در تاریخ : | 27 مرداد 1399 12:04 |
آخرین تغییر : | 01 دی 1399 12:52 |
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