Senocak Tasci Elif, Bicik Zerrin
Department of Internal Medicine, Duzce University Faculty of Medicine, Duzce, Turkey.
Iran J Kidney Dis. 2015 Sep;9(5):406-8.
Fabry disease, an X-linked lysosomal storage disorder, is caused by α-galactosidase A deficiency and leads to accumulation of glycospinhgolipids in most tissues, with life-theratening consequences in the kidney, heart, and cerebrovascular system. Enzyme replacement therapy is available as 2 different preparations: agalsidase alfa and agalsidase beta. Enzyme replacement therapy is started as soon as the diagnosis is confirmed, but there is no data available in the literature about its safety during preganacy. Herein, we described 2 patients with Fabry disease who received agalsidase beta during their pregnancy. This report is important as the data about enzyme replacement therapy during pregnancy is restricted with case reports.
法布里病是一种X连锁溶酶体贮积症，由α-半乳糖苷酶A缺乏引起，导致大多数组织中糖鞘脂蓄积，对肾脏、心脏和脑血管系统造成危及生命的后果。酶替代疗法有两种不同制剂：阿加糖酶α和阿加糖酶β。一旦确诊即开始酶替代疗法，但文献中尚无关于其在妊娠期安全性的数据。在此，我们描述了2例在妊娠期接受阿加糖酶β治疗的法布里病患者。由于妊娠期酶替代疗法的数据仅限于病例报告，本报告具有重要意义。
