Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy.
Chair of Pediatrics, Department of Educational Sciences, University of Catania, Via Casa Nutrizione, 39, 95124 Catania, Italy.
Cells. 2020 Aug 14;9(8):1902. doi: 10.3390/cells9081902.
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome. Although the cellular pathogenesis of LSDs is complex and still not fully understood, the approval of disease-specific therapies and the rapid emergence of novel diagnostic methods led to the implementation of extensive national newborn screening (NBS) programs in several countries. In the near future, this will help the development of standardized workflows aimed to more timely diagnose these conditions. Hereby, we report an overview of LSD diagnostic process and treatment strategies, provide an update on the worldwide NBS programs, and discuss the opportunities and challenges arising from genomics applications in screening, diagnosis, and research.
溶酶体贮积症（LSD）是一组异质性罕见的多系统遗传性疾病，主要发生在婴儿和儿童期，其特征是溶酶体内未降解的底物逐渐积累。尽管 LSD 的细胞发病机制复杂且尚未完全阐明，但特定疾病治疗方法的批准和新型诊断方法的快速出现，促使多个国家实施了广泛的新生儿筛查（NBS）计划。在不久的将来，这将有助于制定旨在更及时诊断这些疾病的标准化工作流程。在此，我们报告 LSD 诊断过程和治疗策略的概述，提供全球 NBS 计划的最新情况，并讨论基因组学在筛查、诊断和研究中的应用所带来的机遇和挑战。
