溶酶体贮积症(lysosomal storage diseases , LSDs)是罕见的编码溶酶体水解酶突变导致代谢紊乱而造成的一类疾病。这些疾病病因都是由于缺乏功能正常的溶酶体水解酶或者发生溶酶体损伤。复杂的大分子降解受损导致底物在组织中积聚并随后导致细胞和器官功能障碍。目前LSDs的治疗主要包括酶替代疗法、底物置换法、伴侣疗法等,这些治疗方法大多数不能治愈疾病,只能延缓疾病的进程,需要不间断的注射药物,同时还耗费了大量的金钱,且由于种种原因,药物通常不能有效到达理想部位,导致治疗效果降低,故亟需开展新型的治疗手段。细胞外囊泡(extracellular vesicles, EVs)是机体分泌的一种天然成分,在多种疾病中都具有潜在的应用价值。然而EVs在LSDs疾病进程中的作用和治疗手段并不清晰,本综述通过回顾PubMed上的文献,对常见的2种LSDs病(法布雷病和戈谢病)中的EVs研究现状进行了整理和总结,综述了LSD诊疗中的EVs相关生物标志物和工程化EVs治疗疾病的研究进展。

Lysosomal storage disorders (LSD) are a rare class of diseases caused by mutations in genes encoding lysosomal hydrolases, leading to metabolic disorders. These disorders arise from either the absence of functional lysosomal hydrolases or damage to the lysosomes. Impaired degradation of complex macromolecules leads to the accumulation of substrates in tissues and subsequent dysfunction of cells and organs. Current treatment options for LSDs primarily include enzyme replacement therapy, substrate reduction therapy, and chaperone therapy. However, most of these treatments do not cure the disease, but merely delay its progression. They necessitate continuous administration of medications, which can be financially burdensome, and often fail to effectively reach target sites due to various challenges, resulting in diminished therapeutic effects. Therefore, there is an urgent need for more effective and thorough treatment options. Extracellular vesicles (EVs) are naturally secreted components with potential applications in various diseases. However, their role and therapeutic potential in the context of LSDs remain unclear. This article summarizes current research progress on EVs in two common LSDs, Fabry disease and Gaucher disease, by reviewing literature from PubMed. It discusses biomarkers associated with EVs in the diagnosis and treatment of LSDs, as well as advancements in engineered EVs for therapeutic applications.