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寻找Fabry,发现更多:LVH查产生了意想不到的Gaucher诊断

Sylwia Szczepara^1,2, Klaudia Pacia^1,2, Katarzyna Trojanowicz^1,2

¹Department of Cardiac and Vascular Diseases, Institute of Cardiology, St. John Paul II Hospital, Jagiellonian University Medical College, 31-202 Krakow, Poland.

Medical sciences (Basel, Switzerland)

|September 22, 2025

概括

费布里病 (FD) 影响了2%的女性,患有无法解释的左心室缩 (LVH). 酶查后进行基因检测是早期FD诊断和治疗的有效方法.

科学领域:

遗传学是一个遗传学.
心脏病学心脏病学
罕见疾病罕见疾病

背景情况:

法布里病 (FD) 是一种X链 lysosomal储存障碍,由α-galactosidase A 缺乏引起.
左心室缩 (LVH) 可能是法布里病的表现.

研究的目的:

为了确定法布里病在无法解释的LVH患者中的患病率.
评估基于酶的查的有效性,然后进行用于FD检测的基因测试.

主要方法:

对α-银酸酶A活性进行了酶分析,对202名患有LVH的成年人干血斑进行了测试.
酶活性较低的患者接受了GLA基因测序.
根据ESC的指导方针评估了心声学参数.

主要成果:

在4名女性 (2%) 诊断出Fabry病,所有女性都有明显的致病性GLA突变和正常或边缘酶活性.
受影响的个体呈现出可变的心脏,脏或神经症状.
级联基因查发现了16名额外的家庭成员与FD.
一名患者 (0.5%) 偶然被诊断患有高氏病.

结论:

费布里病发生在2%的无法解释的LVH患者中,主要发生在女性中.
酶查和基因检测为早期FD检测提供了一个具有成本效益的策略.
在LVH患者中,常规查FD对于及时治疗和家庭咨询至关重要.

关键词:

费布里病是什么意思费布里病是什么意思心肌病性心脏病 - 心肌病性心脏病基因查基因查基因查左心室缩症是指左心室缩症.流行率研究研究研究.罕见疾病是一种罕见的疾病.

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