White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up
White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up
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DOI：
10.1590/s0004-282x2006000500002
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发表时间：
2006-09-01
影响因子：
1.4
通讯作者：
Giugliani, Roberto
中科院分区：
文献类型：
--
作者：
Jardim, Laura B.;Aesse, Flávio;Giugliani, Roberto
目的：报告法布里病 (FD) 患者接受阿加糖酶-α 酶替代疗法 (ERT) 24 个月期间的临床和神经影像学、中枢神经系统 (CNS) 结果。方法。其中包括八名患者。六人完成了 24 个月的 ERT。临床和磁共振成像 (MRI) 数据在 ERT 的 0、12 和 24 个月时获得。评估白质病变（WML）及其与年龄、症状和神经系统检查（CNS 评分）的关系。结果：3例患者MRI稳定。一名患者的 WML 和 CNS 评分恶化，另一名患者的 WML 和 CNS 评分出现波动，第六名患者的 WML 和 CNS 评分有所改善。在整个系列中，基线时有 15 个 WML，第 24 个月有 19 个。两年内，4 个病变消失，而 8 个出现。结论：在 FD 中发现了一种广泛存在的无症状 WML 模式。两年的时间里，有的WML出现了，有的消失了。这些现象是否与自然历史有关，仍有待证明。
Purpose: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha. Method. Eight patients were included. Six completed 24 months of ERT. Clinical and magnetic resonance imaging (MRI) data were obtained at 0, 12 and 24 months of ERT. White matter lesions (WML) were evaluated as well as their relation to age, symptoms and neurological examination (CNS score). Results: MRI was stable in 3 patients. WML and CNS score worsened in one patient, fluctuated in another, and improved in the sixth patient. In the whole series, there were 15 WML at baseline, and 19 at the 24(th) month. In two years, 4 lesions disappeared, whereas 8 appeared. Conclusion: A widespread pattern of silent WML in FD was seen. In two years, some WML appeared, and some disappeared. If these phenomena were related to the natural history, remains to be demonstrated.