...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >The Frequency of Fabry Disease among Young Cryptogenic Stroke Patients in the City of Sakarya
【24h】

The Frequency of Fabry Disease among Young Cryptogenic Stroke Patients in the City of Sakarya

机译：萨卡拉市年轻密码脑卒中患者的法布里病频率

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

Background: Fabry disease (FD) is known as a rare cause of stroke. Recent studies suggested that FD is an underdiagnosed entity among young stroke patients. We aimed to investigate the frequency of FD in young cryptogenic stroke patients who lived in the City of Sakarya and to define the clinical features that help in recognizing patients with FD. Methods: Acute ischemic stroke patients aged 1855 years who were admitted to our hospital between October 2013 and September 2016 were evaluated for inclusion. Patients with other recognized causes of stroke were excluded. The screening was performed for alpha-galactosidase A (alpha-Gal A) activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low plasma alpha-Gal A activity. Results: Among the 484 acute ischemic stroke patients, 54 (24 male, 44.4%) young cryptogenic stroke patients were enrolled. The alpha-Gal A activity was detected as low in 3 patients. c.[680G > A] p.[R227Q] missense mutation was identified in 2 male patients. The frequency of FD was calculated as 3.7%. Conclusions: Our research is the first FD screening study in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients as it is a rare but potentially treatable entity.
机译：背景：法布里疾病（FD）被称为罕见的中风原因。最近的研究表明，FD是年轻中风患者之间的欠诊实体。我们旨在调查在萨卡雷纳市生活的年轻密码脑卒中患者中的FD频率，并定义有助于识别FD患者的临床特征。方法：评估2013年10月至2016年9月在2016年10月至2016年9月在2016年至2016年9月入院的急性缺血性脑卒中患者进行纳入。排除了其他公认的卒中原因的患者。对干血斑上的α-半乳糖苷酶A（α-GAL A）活性进行筛选，并且DNA在低血浆α-GAL A活性的患者中进行GLA突变。结果：484例急性缺血性卒中患者中，54名（24只雄性，44.4％）注册了年轻的密码脑卒中患者。在3名患者中检测到α-GAL A活性。 C. [680g> a] p。[R227Q]在2名男性患者中鉴定了畸形突变。 FD的频率计算为3.7％。结论：我们的研究是土耳其中风患者的第一个FD筛选研究。我们的结果强调了考虑FD期间对年轻密码脑卒中患者的病因评估，因为它是一种罕见但潜在的治疗实体。

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