Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever
Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever
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根据 MEFV 基因对家族性地中海热患者进行临床和人口统计学评估
DOI：
10.1007/s10528-018-9889-y
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发表时间：
2018
影响因子：
2.4
通讯作者：
O. Demir
中科院分区：
文献类型：
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作者：
Ergün Sönmezgöz;Samet Özer;A. Gül;Resul Yılmaz;Tuba Kasap;Ş. Takçı;Rüveyda Gümüşer;O. Demir
本研究探讨了土耳其黑海地区家庭性地中海热（FMF）儿童的临床表现和突变分析之间的关系。这项回顾性横断面研究纳入了2007年至2015年期间接受评估的FMF患者。根据Tel Hashomer标准诊断FMF。使用实时PCR系统（Roche Diagnostics，曼海姆，德国）分析FMF突变，并根据等位基因状态将患者分为三组。最常见的症状为腹痛（99%，n = 197）。最常见的突变是M694 V和R202 Q。M694 V纯合子患者更常报告胸痛（61.4%）。虽然发热、腹痛和关节炎在M694 V突变中更常见，但胸痛是R202 Q携带者最常见的症状（n= 10，32.3%）。在42例（21.2%）患者中观察到蛋白尿，通常伴有M694 V突变（28.6%）。土耳其FMF儿童中最常见的突变是M694 V和R202 Q。复发性腹痛和关节炎/关节痛在M694 V和R202 Q突变患者中常见。此外，胸痛是常见的R202 Q突变。因此，R202 Q可能是FMF患者的致病突变。
The present study examined the relationship between clinical findings and mutation analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region of Turkey. This retrospective, cross-sectional study included patients with FMF who were evaluated between 2007 and 2015. FMF was diagnosed according to the Tel Hashomer criteria. FMF mutations were analyzed using a Real-time PCR System (Roche Diagnostics, Mannheim, Germany), and patients were classified into three groups according to allele status. The most common symptom was abdominal pain (99%,n= 197). The most frequent mutations were M694V and R202Q. Chest pain was reported more often in patients homozygous for M694V (61.4%). Although fever, abdominal pain, and arthritis were more commonly observed with the M694V mutation, chest pain was the most common symptom in R202Q carriers (n= 10, 32.3%). Proteinuria was observed in 42 (21.2%) patients, frequently accompanied by the M694V mutation (28.6%). The most common mutations in children with FMF in Turkey were M694V and R202Q. Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations. Moreover, chest pain was commonly seen with the R202Q mutation. Thus, R202Q might be a disease-causing mutation in FMF patients.