[溶酶体贮积症的酶替代疗法]

[Enzyme replacement therapy for lysosomal storage disorders].

作者信息

Valayannopoulos V, Brassier A, Chabli A, Caillaud C, Lemoine M, Odent T, Arnoux J B, de Lonlay P

机构信息

Centre de référence des maladies héréditaires du métabolisme de l'enfant et de l'adulte (MaMEA), hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.

出版信息

Arch Pediatr. 2011 Oct;18(10):1119-23. doi: 10.1016/j.arcped.2011.07.002. Epub 2011 Aug 27.

DOI:10.1016/j.arcped.2011.07.002

PMID:21873040

Abstract

In the last years, much progress has been achieved in the treatment of lysosomal storage disorders. Until recently only symptomatic treatment was available for the affected patients. Progressively enzyme replacement treatments have been developed for several diseases, namely Gaucher disease, Fabry disease, mucopolysaccharidoses type I, II and VI and Pompe disease. In this review we will summarize the efficacy and safety of these treatments and describe new therapeutic trials for other lysosomal storage disorders or perspectives in the use of currently available treatments.

摘要

近年来，溶酶体贮积症的治疗取得了很大进展。直到最近，受影响的患者还只能接受对症治疗。逐渐地，针对几种疾病开发了酶替代疗法，即戈谢病、法布里病、I型、II型和VI型黏多糖贮积症以及庞贝病。在这篇综述中，我们将总结这些治疗方法的疗效和安全性，并描述针对其他溶酶体贮积症的新治疗试验或当前可用治疗方法的应用前景。