以卒中为主要表现的青年女性Fabry病1例  

Fabry disease in a young female with stroke as the primary manifestation: a case report

作　　者：周蓉 贺智娇 程忻 Zhou Rong;He Zhijiao;Cheng Xin(Department of Neurology,Huashan Hospital,Fudan University,National Center for Neurological Disorders,National Clinical Research Centre for Aging and Medicine,Shanghai 200040,China)

机构地区：[1]复旦大学附属华山医院神经内科,国家神经疾病医学中心,国家老年疾病临床医学研究中心,上海200040

出　　处：《中华神经科杂志》2025年第1期80-86,共7页Chinese Journal of Neurology

基　　金：上海市卫生健康委员会卫生健康学科带头人计划(2022XD022)。

摘　　要：Fabry病是一种X连锁的由半乳糖苷酶A活性缺陷导致的溶酶体贮积病,是一种累及多系统的复杂疾病,症状和体征大多为非特异性,容易被漏诊或误诊。本文报道了1例青年女性Fabry病患者,主要表现为反复头痛、发热和缺血性卒中,通过基因检测结合临床表现及实验室检查结果确诊为Fabry病,并开启酶替代治疗。文中通过文献复习总结了Fabry病的临床表现,诊断的神经影像学、实验室检查和基因检测要点以及合并无菌性脑膜炎的少见情况,旨在提高临床医师对Fabry病的认识和早期诊断水平。Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency inα-galactosidase A,leading to a multi-systemic,complex condition.Due to the predominantly non-specific symptoms and signs,it can be easily underdiagnosed or misdiagnosed in the early stage.A young female patient with Fabry disease,who presented primarily with recurrent headaches,fever,and ischemic stroke was reported in this paper.The diagnosis of Fabry disease was confirmed through genetic testing in conjunction with clinical manifestations and laboratory findings,and enzyme replacement therapy was initiated.The clinical manifestations of Fabry′s disease,the key points for diagnosis through neuroimaging,laboratory tests,genetic testing,as well as the rare occurrence of associated aseptic meningitis were summarized through the literature review,aiming to enhance the clinical awareness and early diagnosis of Fabry disease.

关 键 词：FABRY病 无菌性脑膜炎 卒中 GLA基因 Α-半乳糖苷酶A 

分 类 号：R596.1[医药卫生—内科学]