Brief report: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.
Brief report: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.
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DOI：
10.1056/nejm200107053450104
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发表时间：
2001-07-01
影响因子：
158.5
通讯作者：
Desnick, RJ
中科院分区：
文献类型：
--
作者：
Frustaci, A;Chimenti, C;Desnick, RJ
法布里病是一种X-连锁遗传性鞘糖脂代谢异常，由α-半乳糖苷酶A（一种溶酶体外切糖苷酶）活性缺乏引起。1，2在患有该疾病的典型形式的男性中，α-半乳糖苷酶A活性几乎没有。结果，未降解的鞘糖脂积聚，特别是在血管内皮中。这些沉积物引起法布里病的特征性血管角化瘤、肢端感觉异常、多汗和角膜混浊。受影响的人在成年早期死亡可能是由于心脏、肾脏或大脑的血管疾病。这些异常在患有心脏变异性疾病的男性中不存在。那些心脏变异的人. .. . . .
Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism caused by deficient activity of α-galactosidase A, a lysosomal exoglycosidase.1,2In males with the classic form of the disease, there is little if any α-galactosidase A activity. As a result, undegraded glycosphingolipids accumulate, particularly in the vascular endothelium. These deposits cause the characteristic angiokeratomas, acroparesthesias, hypohidrosis, and corneal opacities of Fabry's disease. Death in early adulthood in affected persons may be due to vascular disease of the heart, kidney, or brain. These abnormalities are absent in males with the cardiac variant of the disease. Those with the cardiac variant . . .