密码性中风患者中法布里病的患病率:一项前性研究
Arndt Rolfs1, Tobias Böttcher, Marlies Zschiesche
1Department of Neurology, University of Rostock, Rostock, Germany. arndt.rolfs@med.uni-rostock.de
Lancet (London, England)
|November 22, 2005
概括
费布里病是年轻成年人中风的一个重要,但往往未被认可的原因. 对这种遗传性疾病的查对于无法解释的中风病例至关重要,特别是那些涉及脊髓关动脉系统的病例.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 血管医学 血管医学
背景情况:
- 脑卒中是年轻人死亡和残疾的主要原因,原因往往仍未知.
- 安德森-法布里病是一种X系遗传性疾病,可导致内皮血管病变和脑缺血.
- 未被认可的法布里病可能导致年轻人群中大量的密码性中风.
研究的目的:
- 调查未诊断的法布里病在患有急性密码性中风的年轻成年患者队列中的患病率.
- 在脑血管事件的背景下评估法布里病突变的临床意义.
主要方法:
- 在2001年至2004年期间选了721名年龄在18-55岁的德国患者,他们患有急性密码性中风.
- 在男性中测量了血α-银酸酶活性,随后对低酶活性进行了α-GAL基因测序.
- 基因选了女性的α-GAL基因突变,无论酶活性水平如何.
主要成果:
- 在4.9%的男性 (21/432) 和2.4%的女性 (7/289) 中发现了α-GAL基因的生物学显著突变.中风患者.
- 平均中风发病年龄为男性38.4岁,女性40.3岁.
- 在患有法布里病突变的患者中观察到更高的脊椎关动脉梗塞和多利切塔性血管变化的发生率.
结论:
- 费布里病是年轻人中密码性中风的常见潜在原因,约占病例的1.2%.
- 对所有患有不明原因中风的年轻患者来说,考虑法布里病是必不可少的.
- 应特别注意出现脊柱动脉系统梗塞和蛋白尿的患者,因为这些可能表明法布里病.
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