Mehta A, Ginsberg L
Department of Haematology, Royal Free Hospital, London, UK.
Acta Paediatr Suppl. 2005 Mar;94(447):24-7; discussion 9-10. doi: 10.1111/j.1651-2227.2005.tb02106.x.
Fabry disease is a rare, X-linked lysosomal storage disease caused by an inborn deficiency of alpha-galactosidase A, which results in progressive accumulation of globotriaosylceramide in a range of cells and tissues. Neurological symptoms of Fabry disease, including peripheral neuropathy and cerebrovascular events, are among the most significant clinical aspects. In this paper we present the natural history and mechanisms involved in the cerebrovascular complications of Fabry disease using data reported in FOS-- the Fabry Outcome Survey--and other registries and clinical studies. We discuss ways in which these manifestations can be modified by intervention, including both general measures for cerebrovascular disease and enzyme replacement therapy.
Data from FOS have provided important insights into the natural history of the cerebrovascular complications of Fabry disease. Furthermore, the database has demonstrated that significant renal or cardiac disease often co-exists with cerebrovascular disease, and may predispose patients with Fabry disease to neurological disability and stroke.
法布里病是一种罕见的X连锁溶酶体贮积病，由α-半乳糖苷酶A先天性缺乏引起，导致球三糖神经酰胺在一系列细胞和组织中进行性蓄积。法布里病的神经症状，包括周围神经病变和脑血管事件，是最重要的临床方面之一。在本文中，我们利用法布里病结局调查（FOS）及其他登记处和临床研究报告的数据，阐述了法布里病脑血管并发症的自然病史及相关机制。我们讨论了通过干预改善这些表现的方法，包括脑血管疾病的一般措施和酶替代疗法。
FOS的数据为法布里病脑血管并发症的自然病史提供了重要见解。此外，该数据库表明，严重的肾脏或心脏疾病常与脑血管疾病并存，可能使法布里病患者易发生神经功能障碍和中风。
