Rajan Deepa S, Escolar Maria L
Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Metab Brain Dis. 2022 Oct;37(7):2245-2256. doi: 10.1007/s11011-022-00939-0. Epub 2022 Apr 20.
Lysosomal storage disorders (LSD) are multisystemic progressive disorders caused by genetic mutations involving lysosomal function. While LSDs are individually considered rare diseases, the overall true prevalence of these disorders is likely higher than our current estimates. More than two third of the LSDs have associated neurodegeneration and the neurological phenotype often defines the course of the disease and treatment outcomes. Addressing the neurological involvement in LSDs has posed a significant challenge in the rapidly evolving field of therapies for these diseases. In this review, we summarize current approaches and clinical trials available for patients with neuronopathic lysosomal storage disorders, exploring the opportunities and challenges that have emerged with each of these.
溶酶体贮积症（LSD）是由涉及溶酶体功能的基因突变引起的多系统进行性疾病。虽然LSDs被单独视为罕见病，但这些疾病的总体实际患病率可能高于我们目前的估计。超过三分之二的LSDs伴有神经退行性变，神经表型通常决定疾病进程和治疗结果。在这些疾病治疗快速发展的领域中，应对LSDs的神经受累问题构成了重大挑战。在本综述中，我们总结了目前针对神经病变性溶酶体贮积症患者的治疗方法和临床试验，探讨了每种方法所带来的机遇和挑战。
