Familial Mediterranean fever in Syrian children: phenotype–genotype correlation

被引：0
作者：
Rami A. Jarjour
Sumaya Al-Berrawi
机构：
[1] Atomic Energy Commission of Syria (AECS),Clinical Genetics Unit, Molecular Biology and Biotechnology Department
来源：
Rheumatology International | 2015年 / 35卷
关键词：
Familial Mediterranean fever; Genotype–phenotype correlation; Syrian children;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of serosal membranes. In this study, 103 unrelated Syrian children were included. Mutation screening of the MEditerranean FeVer gene was performed for 12 mutations. Abdominal pain was observed in 91 (88.3 %) of the patients, fever in 82 (79.6 %), arthritis in 27 (26.2 %), pleuritis in 7 (6.7.5 %), rash and erysipelas-like erythema in 5 (4.8 %), myalgia in 5 (4.8 %), headache in 5 (4.8 %) and Henoch–Schonlein purpura in 1 (0.97 %). The most frequent mutation was M694V. In order to determine the association between M694V and clinical features of FMF, we compared the disease features between patients with and without this mutation. The presence of M694V was found to be associated with more severe course of FMF, earlier age of onset and more frequent arthritis in the Syrian children with FMF compared to other FMF patients who do not have this mutation.
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页码：629 / 634
页数：5
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