溶酶体贮积症的当前管理策略。

Current strategies in the management of lysosomal storage diseases.

作者信息

Heese Bryce A

机构信息

Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, FL 32610, USA.

出版信息

Semin Pediatr Neurol. 2008 Sep;15(3):119-26. doi: 10.1016/j.spen.2008.05.005.

DOI:10.1016/j.spen.2008.05.005

PMID:18708002

Abstract

Lysosomal storage diseases (LSDs) comprise a diverse group of over 40 clinically distinct inherited disorders. LSDs are progressive and may present at any age affecting any number of tissues and organ systems. They result from a genetic defect in cellular transport or metabolism of molecules within the lysosome. Treatment is directed toward symptomatic care of secondary complications for most of these diseases. For some individuals, hematopoietic stem cell transplantation or enzyme-replacement therapy can be effective. However, limitations in these therapies still exist. To date, there is no cure for any of the LSDs. Early diagnosis and treatment is essential for optimal treatment; this lends support to implementing mass newborn screening for LSDs.

摘要

溶酶体贮积症（LSDs）是一组超过40种临床症状各异的遗传性疾病。LSDs呈进行性发展，可在任何年龄发病，影响多个组织和器官系统。它们是由溶酶体内分子的细胞转运或代谢中的遗传缺陷引起的。对于大多数这类疾病，治疗主要针对继发性并发症的对症护理。对于一些患者，造血干细胞移植或酶替代疗法可能有效。然而，这些疗法仍存在局限性。迄今为止，尚无任何一种LSDs能够治愈。早期诊断和治疗对于实现最佳治疗效果至关重要；这为开展LSDs群体新生儿筛查提供了支持。