Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort
Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort
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DOI：
10.1016/j.ymgme.2015.11.014
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发表时间：
2016-02-01
影响因子：
3.8
通讯作者：
Biegstraaten, Marieke
中科院分区：
文献类型：
--
作者：
Arends, Maarten;Linthorst, Gabor E.;Biegstraaten, Marieke
法布里病 (FD) 是一种进行性、多器官、溶酶体贮积病。酶替代疗法（ERT）可用于治疗该疾病。虽然开始 ERT 的原因经常被讨论，但中止 ERT 的报道却很少。在本文中，我们描述了在 FD 中停止 ERT 的经验。从 1999 年到 2015 年，有 21 名患者停止了 ERT。与继续 ERT 的患者相比，这些患者通常年龄较大且受影响更严重。停止 ERT 的原因从最初几年的死亡或绝症转变为近年来的治疗失败。更详细地描述了三种情况。我们的结论是，在 FD 患者亚组中应该或可以考虑停止 ERT，尽管需要进一步研究 ERT 在患者亚组中的有效性以及停止 ERT 后的病程。 (C) 2015 Elsevier Inc. 保留所有权利。
Fabry disease (FD) is a progressive, multi-organ, lysosomal storage disease. Enzyme replacement therapy (ERT) is available for the treatment of the disease. While the reasons to initiate ERT have been frequently discussed, discontinuation of ERT is rarely reported. In this paper we describe our experiences with stopping ERT in FD. From 1999 through 2015, twenty-one patients discontinued ERT. These patients were generally older and more severely affected in comparison those who continued ERT. The reason to discontinue ERT switched from death or terminal illness in the first years towards treatment failure in more recent years. Three cases are described in more detail. We conclude that discontinuation of ERT should or may be considered in subgroups of FD patients although further studies on the effectiveness of ERT in subgroups of patients and the course of the disease after discontinuation of ERT are needed. (C) 2015 Elsevier Inc. All rights reserved.