• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Biochemical Genetics >Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever
【24h】

Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever

机译：根据家族地中海发烧患者MEFV基因的临床和人口统计学评价

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

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.
机译：本研究检测了土耳其内黑海地区家族地中海热（FMF）临床发现与突变分析的关系。这种回顾性的横截面研究包括在2007年至2015年间评估的FMF患者。根据TEL HASHOMER标准诊断FMF。使用实时PCR系统（Roche Diagnostics，Mannheim，Germany）分析FMF突变，并且根据等位基因状态分为三组。最常见的症状是腹痛（99％，n = 197）。最常见的突变是M694V和R202Q。 M694V纯合（61.4％）的患者患者更常见胸痛。虽然用M694V突变更常见的发烧，腹痛和关节炎，但胸痛是R202Q载体中最常见的症状（n = 10,32.3％）。在42例（21.2％）患者中观察到蛋白尿，经常伴有M694V突变（28.6％）。土耳其FMF的儿童中最常见的突变是M694V和R202Q。在M694V和R202Q突变患者中通常观察到复发性腹痛和关节炎/关节痛。此外，胸部疼痛常见于R202Q突变。因此，R202Q可能是FMF患者的疾病突变。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号