FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.

FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.


چاپ صفحه
پژوهان
صفحه نخست سامانه
چکیده مقاله
چکیده مقاله
نویسندگان
نویسندگان
دانلود مقاله
دانلود مقاله
دانشگاه علوم پزشکی تبریز
دانشگاه علوم پزشکی تبریز

نویسندگان: محمد حسین صومی , سوسن میرنجدگرامی , مرتضی جبارپور بنیادی

کلمات کلیدی: Amyloidosis Familial Mediterranean fever Iran M694V/R761H

نشریه: 16525 , 7 , 18 , 2015

اطلاعات کلی مقاله
hide/show

نویسنده ثبت کننده مقاله سوسن میرنجدگرامی
مرحله جاری مقاله تایید نهایی
دانشکده/مرکز مربوطه بیماری های گوارش و کبد
کد مقاله 68451
عنوان فارسی مقاله FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.
عنوان لاتین مقاله FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.
ناشر 3
آیا مقاله از طرح تحقیقاتی و یا منتورشیپ استخراج شده است؟ خیر
عنوان نشریه (خارج از لیست فوق)
نوع مقاله Original Article
نحوه ایندکس شدن مقاله ایندکس شده سطح یک – ISI - Web of Science
آدرس لینک مقاله/ همایش در شبکه اینترنت

خلاصه مقاله
hide/show

Objective(s): Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and the most common mutant alleles of the MEFV gene in an Iranian Azeri Turk population. Materials and Methods: We analyzed clinical and genetic data from 415 patients identified as having FMF clinical symptoms and who were referred to the Molecular Genetics Laboratory of Tabriz/Iran over the last 3 years. The mutation type and clinical characteristics were determined for each patient. Results: The following primary clinical characteristics of the patients were observed: peritonitis was observed in 378 (93.8%), high‐grade fever in 351 (86.88%), arthritis in 215 (54.57%), pleuritis in 207 (53.49%), myalgia in 153 (41.69%), AA amyloidosis in 149 (40.16%), and erysipelas‐like erythema in 54 (14.96%) subjects. A positive response to colchicines treatment was noted in 374 (95.1%) patients including 303 patients with two mutated alleles and 71 patients with one identified mutation. Conclusion: In contrast to previous studies, there was no significant association between M694V mutation and development of amyloidosis. The M680I/M680I, M680I, M694I, and M694V/R761H genotypes were found to be associated with the development of amyloidosis. These results indicate that physicians need to pay careful attention to patients with asymptomatic or mildly symptomatic FMF with these genotypes.

نویسندگان
hide/show

نویسنده نفر چندم مقاله
محمد حسین صومیدوم
سوسن میرنجدگرامیششم
مرتضی جبارپور بنیادیاول

لینک دانلود مقاله
hide/show

نام فایل تاریخ درج فایل اندازه فایل دانلود
IJBMS_Volume 18_Issue 7_Pages 659-663.pdf1398/09/10236441دانلود