Talaat Hala S, Sheba Maha F, Mohammed Rehab H, Gomaa Mohamed Ali, Rifaei Nihal El, Ibrahim Mohamed Farouk M
Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.
Ministry of Health, Cairo, Egypt.
Mediterr J Rheumatol. 2020 Jun 15;31(2):206-213. doi: 10.31138/mjr.31.2.206. eCollection 2020 Jun.
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is characterized by recurrent episodes of fever, peritonitis, pleuritis, pericarditis, and/or arthritis. MEFV is the responsible gene for FMF, of which more than 310 mutations have been reported; M694V, M694I, V726A, E148Q, and M680I mutations are the five most frequent mutations responsible for the majority of FMF patients in the Middle East.
To study the genetic background of FMF among Egyptian children to detect the most frequent MEFV mutations and to study the response of colchicine therapy with different gene mutations.
This cross-sectional study included 109 pediatric patients already diagnosed clinically with FMF, and were following-up at the Rheumatology Outpatient Clinic, Children's Hospital, Cairo University.
Out of 109 patients, 95 had positive-MEFV mutation (87.16%), of which the most frequent mutations were E148Q (24/95 patients, 25.26%), V726A (19/95 patients, 20%), M680I (19/95 patients, 20%), M694V (17/95 patients, 17.89%), and M694I (7 patients, 7.37%). A better response to colchicine therapy was noted in E148Q mutation; on the other hand, more severe cases were reported with M694V mutations.
E148Q, V726A, M680I, M694V and M694I mutations are the most frequent mutations denoting the heterogeneous mutation pattern and the milder form of the disease among Egyptian patients. M694V mutations may indicate a more severe disease score.
家族性地中海热（FMF）是一种常染色体隐性自身炎症性疾病，其特征为发热、腹膜炎、胸膜炎、心包炎和/或关节炎反复发作。MEFV是FMF的致病基因，已报道的突变超过310种；M694V、M694I、V726A、E148Q和M680I突变是导致中东地区大多数FMF患者发病的5种最常见突变。
研究埃及儿童FMF的遗传背景，以检测最常见的MEFV突变，并研究不同基因突变对秋水仙碱治疗的反应。
这项横断面研究纳入了109例临床已确诊为FMF的儿科患者，这些患者在开罗大学儿童医院风湿病门诊接受随访。
109例患者中，95例MEFV突变呈阳性（87.16%），其中最常见的突变是E148Q（24/95例患者，25.26%）、V726A（19/95例患者，20%）、M680I（19/95例患者，20%）、M694V（17/95例患者，17.89%）和M694I（7例患者，7.37%）。E148Q突变对秋水仙碱治疗的反应较好；另一方面，M694V突变的病例病情更严重。
E148Q、V726A、M680I、M694V和M694I突变是最常见的突变，表明埃及患者中存在异质性突变模式且疾病形式较轻。M694V突变可能提示疾病评分更高。
