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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  • [1] Sohar E(1967)Familial Mediterranean fever. A survey of 470 cases and review of the literature Am J Med 43 227-253
  • [2] Gafni J(1998)Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health Medicine 77 268-297
  • [3] Pras M(1972)Colchicine for familial Mediterranean fever N Engl J Med 287 1302-324
  • [4] Samuels J(2007)Familial Mediterranean fever: clinical, molecular and management advancements Neth J Med 65 318-31
  • [5] Aksentijevich I(1997)A candidate gene for familial Mediterranean fever Nat Genet 17 25-807
  • [6] Torosyan Y(1997)Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever Cell 90 797-1782
  • [7] Goldfinger SE(2003)Standardized testing for mutations in familial Mediterranean fever Clin Chem 49 1781-486
  • [8] Lidar M(2006)Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype–genotype correlation Eur J Med Genet 49 481-212
  • [9] Livneh A(2008)Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population Pediatr Int 50 208-1279
  • [10] Touitou I(1999)Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients Pediatrics 103 e70-376
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