Gündoğdu Aslı Aksoy, Kotan Dilcan, Alemdar Murat
Department of Neurology, Sakarya University Training and Research Hospital, Sakarya, Turkey.
Department of Neurology, Sakarya University Faculty of Medicine, Sakarya, Turkey.
J Stroke Cerebrovasc Dis. 2017 Jun;26(6):1334-1340. doi: 10.1016/j.jstrokecerebrovasdis.2017.02.004. Epub 2017 Mar 7.
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.
Acute ischemic stroke patients aged 18-55 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 (α-Gal A) activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low plasma α-Gal A activity.
Among the 484 acute ischemic stroke patients, 54 (24 male, 44.4%) young cryptogenic stroke patients were enrolled. The α-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%.
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.
法布里病（FD）是已知的导致中风的罕见病因。最近的研究表明，FD在年轻中风患者中是一种诊断不足的疾病。我们旨在调查居住在萨卡里亚市的年轻隐源性中风患者中FD的发生率，并确定有助于识别FD患者的临床特征。
对2013年10月至2016年9月期间入住我院的18 - 55岁急性缺血性中风患者进行纳入评估。排除有其他已知中风病因的患者。在干血斑上检测α - 半乳糖苷酶A（α - Gal A）活性，并对血浆α - Gal A活性低的患者进行GLA基因突变测序。
在484例急性缺血性中风患者中，纳入了54例（24例男性，占44.4%）年轻隐源性中风患者。3例患者检测到α - Gal A活性低。在2例男性患者中鉴定出c.[680G＞A] p.[R227Q]错义突变。FD的发生率计算为3.7%。
我们的研究是土耳其中风患者中首次进行的FD筛查研究。我们的结果强调了在年轻隐源性中风患者的病因评估中考虑FD的重要性，因为它是一种罕见但可能可治疗的疾病。
