Beck Michael
Institute of Human Genetics, University Medical Center, University of Mainz, Mainz, Germany.
Dev Med Child Neurol. 2018 Jan;60(1):13-18. doi: 10.1111/dmcn.13600. Epub 2017 Nov 1.
Over the past several years the number of treatments available for patients with lysosomal storage disorders has rapidly increased. Haematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction, and chaperone therapies are currently available, and gene therapies and other treatments are rapidly advancing. Despite remarkable advances, the efficacy of most of these therapies is limited, particularly because the treatments are usually initiated when organ damage has already occurred. To circumvent this limitation, screening in newborn infants for lysosomal storage disorders has been introduced in many countries. However, this screening is complicated by the broad clinical variability of the disorders and the fact that many individuals who will be detected as having an enzyme deficiency will develop symptoms very late or never in their life. This paper provides an overview of available therapies for lysosomal storage disorders and describes those treatments that are under development.
For a few lysosomal storage disorders, new therapies are available or under development. These therapies include enzyme replacement therapy, small molecules, and gene therapy. The new therapies cannot cure patients, but can stabilize organ function or slow progression.
在过去几年中，可用于溶酶体贮积症患者的治疗方法数量迅速增加。目前有造血干细胞移植、酶替代疗法、底物减少疗法和伴侣疗法，基因疗法和其他治疗方法也在迅速发展。尽管取得了显著进展，但这些疗法大多疗效有限，特别是因为治疗通常在器官损伤已经发生时才开始。为了规避这一限制，许多国家已开始对新生儿进行溶酶体贮积症筛查。然而，这些疾病广泛的临床变异性以及许多被检测出有酶缺乏症的个体在其一生中很晚才会出现症状或根本不出现症状这一事实，使这种筛查变得复杂。本文概述了现有的溶酶体贮积症治疗方法，并描述了正在研发的治疗方法。
对于一些溶酶体贮积症，有新的疗法可供使用或正在研发。这些疗法包括酶替代疗法、小分子疗法和基因疗法。新疗法无法治愈患者，但可以稳定器官功能或减缓疾病进展。
