Fabry disease

法布里病

英文解释

Fabry disease (FD) is an X-linked lysosomal storage disease. A lack of alpha-galactosidase (GLA) activity results in the accumulation of globotriaosylceramide in cells of various systems, leading to multi-systemic effects. The cutaneous hallmark of FD is a specific distribution of angiokeratoma.Other common symptoms include cornea verticillata, acroparesthesia, and sweating abnormalities.

中文解释

法布里病 (FD) 是一种 X 连锁溶酶体储存病。alpha-半乳糖苷酶 A (GLA) 活性的缺乏导致酰基鞘鞍醇三己糖在各种系统的细胞中积累，导致多系统效应。FD 的皮肤特征是血管角化瘤的特定分布。其他常见症状包括角膜轮纹、肢端感觉异常和出汗异常。

参考文献

[1]. Chan B, et al. A Review of Fabry Disease. Skin Therapy Lett. 2018 Mar;23(2):4-6.