Hughes D A, Mehta A B
Department of Academic Haematology, Royal Free and University College Medical School, London, UK.
Acta Paediatr Suppl. 2005 Mar;94(447):28-33; discussion 9-10. doi: 10.1111/j.1651-2227.2005.tb02107.x.
Fabry disease is an X-linked glycosphingolipid storage disorder resulting from deficiency of alpha-galactosidase A. Storage of globotriaosylceramide ultimately results in multiorgan pathology, including cerebrovascular, cardiovascular and renal disease. Vascular involvement is evident throughout the body but the mechanisms by which storage on a cellular level leads to end-organ pathology are unknown. Here the evidence for abnormal blood flow, vessel architecture and endothelial function will be reviewed and possible models of vascular pathology discussed. The effects of reversal of storage within vessels by enzyme replacement therapy (ERT) and the possibilities for intervention with additional agents will be considered.
The pathology of Fabry disease has an important vascular component, although the underlying pathophysiology is unclear. Preliminary evidence suggests that ERT may have beneficial effects on the vascular component of this multisystem disease.
法布里病是一种X连锁糖鞘脂贮积症，由α-半乳糖苷酶A缺乏引起。球三糖神经酰胺的蓄积最终导致多器官病变，包括脑血管、心血管和肾脏疾病。血管受累在全身都很明显，但细胞水平的蓄积导致终末器官病变的机制尚不清楚。本文将综述异常血流、血管结构和内皮功能的证据，并讨论血管病变的可能模型。将考虑酶替代疗法（ERT）逆转血管内蓄积的效果以及使用其他药物进行干预的可能性。
法布里病的病理有重要的血管成分，尽管潜在的病理生理学尚不清楚。初步证据表明ERT可能对这种多系统疾病的血管成分有有益作用。
