Inherited Cardiac Diseases Unit, The Heart Hospital, University College London, UK.
Prog Cardiovasc Dis. 2010 Jan-Feb;52(4):326-35. doi: 10.1016/j.pcad.2009.11.002.
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. The ensuing enzyme deficiency results in intracellular accumulation of neutral glycosphingolipids (primarily globotriaosylceramide) and progressive renal, cardiac, and cerebrovascular disease. Female carriers are at risk of developing disease, but this tends to be milder and more slowly progressive than in males. Left ventricular hypertrophy is the most common cardiac manifestation followed by conduction system disease, valve dysfunction, and arrhythmias. Management of cardiovascular symptoms and the prevention of complications rely on conventional pharmacologic and device-based therapies, but data on the effect of enzyme replacement therapy suggest that it has the potential to attenuate and possibly reverse some aspects of cardiac involvement.
安德森-法布里病是一种罕见的 X 连锁溶酶体贮积症，由编码α-半乳糖苷酶 A 的 GLA 基因突变引起。由此导致的酶缺乏会导致中性糖脂（主要是Globotriaosylceramide）在细胞内蓄积，并逐渐出现肾脏、心脏和脑血管疾病。女性携带者有患病风险，但病情往往比男性轻且进展缓慢。左心室肥厚是最常见的心脏表现，其次是传导系统疾病、瓣膜功能障碍和心律失常。心血管症状的管理和并发症的预防依赖于传统的药物和器械治疗，但酶替代治疗效果的数据表明，它有潜力减轻并可能逆转心脏受累的某些方面。
