صالح زاده, فرهاد ، محمدی کبار, یوسف ، نعمت دوست حقی, رقیه ، حسینی اصل, سید سعید ، انتشاری مقدم, افسانه (1398) جهش ژن تب مدیترانه ای فامیلی و نقرس به عنوان یک بیماری آرتروپاتی خود التهابی. Medical Archives ــ 73 (1). ص.ص.55-57. شاپا 0350-199X
متن کامل
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متنی
- نسخه چاپ شده
567kB |
آدرس اینترنتی رسمی : https://medarch.org/issue/2019-73-1
عنوان انگليسی
Familial Mediterranean Fever Gene Mutations and Gout as an AutoInflammatory Arthropathy
خلاصه انگلیسی
Introduction: The auto-inflammatory diseases (AID) are a heterogeneous group of multi-system disorders of innate immunity dysregulation. MEFV gene has major role in AID. Aim: The aim of this study is to investigate the frequency of MEFV variant alleles in gout patients as an AID and their genotype-phenotype relationship. Methods: Total amount of 224 of the healthy people as a control group (113 male and 111 female) and 24 gouty arthritis patients (20 male and 4 female) entered this study. Blood samples screened for the 12 common pathogenic mutations according to manufacturerÂ’s instructions. Results: The mean age of patients was 54 years. MTP joint was the most involved joint (91.66%). Mutations were shown in 5 patients (20.83%) that were not different from healthy population (25%). Five patients carry one mutated MEFV allele, E148Q in 4 patients and V726A in 1 patient. Control group showed 25% mutations as E148Q (18.3%), P369S (3.1%), V726A (2.2%), A744S (1.3%) respectively. The most common mutation detected in patients was E148Q (16.66%) and all of them were males. No significant and meaningful associations were detected between the MEFV gene mutations and gouty arthritis patients. Conclusion: There was not any correlation between MEFV gene mutations carriage with age, sex, the number of joint involvement and the course of disease in gouty arthritis. MEFV gene mutations were more frequent in men than women, but this is not statistically significant.
نوع سند : | مقاله |
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زبان سند : | انگلیسی |
نویسنده اول : | فرهاد صالح زاده |
نویسنده : | یوسف محمدی کبار |
نویسنده : | رقیه نعمت دوست حقی |
نویسنده : | سید سعید حسینی اصل |
نویسنده مسئول : | افسانه انتشاری مقدم |
ضریب تاثیر و نمایه مجلات: | Inedxed in : PubMed/Medline , Scopus |
کلیدواژه ها (انگلیسی): | Gout; Auto-inflammatory disease; MEFV gene; FMF |
موضوعات : | WS بیماریهای کودکان |
بخش های دانشگاهی : | دانشكده پزشكي > گروه اطفال ، پزشکی اجتماعی دانشكده پزشكي > گروه داخلی ، قلب ، عفونی دانشكده پزشكي > گروه علوم پایه > بخش ژنتیک |
کد شناسایی : | 11920 |
ارائه شده توسط : | خانم صغری گلمغانی |
ارائه شده در تاریخ : | 19 خرداد 1398 13:57 |
آخرین تغییر : | 17 شهریور 1398 14:41 |
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