Union University, Jackson, TN, USA.
Ann Pharmacother. 2013 Sep;47(9):1182-93. doi: 10.1177/1060028013500469.
To review the epidemiology, pathophysiology, and treatments of Gaucher disease (GD), focusing on the role of enzyme replacement therapy (ERT), andsubstrate reduction therapy (SRT).
A literature search through PubMed (1984-May 2013) of English language articles was performed with terms: Gaucher's disease, lysosomal storage disease. Secondary and tertiary references were obtained by reviewing related articles.
All articles in English identified from the data sources, clinical studies using ERT, SRT and articles containing other interesting aspects were included.
GD is the most common inherited LSD, characterized by a deficiency in the activity of the enzyme acid β-glucosidase, which leads to accumulation of glucocerebroside within lysosomes of macrophages, leading to hepatosplenomegaly, bone marrow suppression, and bone lesions. GD is classified into 3 types: type 1 GD (GD1) is chronic and non-neuronopathic, accounting for 95% of GDs, and types 2 and 3 (GD2, GD3) cause nerve cell destruction. Regular monitoring of enzyme chitotriosidase and pulmonary and activation-regulated chemokines are useful to confirm the diagnosis and effectiveness of GD treatment.
There are 4 treatments available for GD1: 3 ERTs and 1 SRT. Miglustat, an SRT, is approved for mild to moderate GD1. ERTs are available for moderate to severe GD1 and can improve quality of life within the first year of treatment. The newest ERT, taliglucerase alfa, is plant-cell derived that can be produced on a large scale at lower cost. Eliglustat tartrate, another SRT, is under phase 3 clinical trials. No drugs have been approved for GD2 or GD3.
综述戈谢病（GD）的流行病学、病理生理学和治疗方法，重点介绍酶替代疗法（ERT）和底物还原疗法（SRT）的作用。
通过PubMed（1984 年-2013 年 5 月）检索英文文献，检索词为“Gaucher's disease，lysosomal storage disease”。通过查阅相关文章获取次要和三级参考文献。
从数据源中获取的所有英文文章、使用 ERT、SRT 的临床研究以及包含其他有趣方面的文章均被纳入。
GD 是最常见的遗传性溶酶体贮积病，其特征为酸性β-葡萄糖苷酶活性缺乏，导致葡糖脑苷脂在巨噬细胞溶酶体中蓄积，引起肝脾肿大、骨髓抑制和骨骼病变。GD 分为 3 型：1 型 GD（GD1）为慢性非神经病变型，占 GD 的 95%，2 型和 3 型（GD2、GD3）导致神经细胞破坏。定期监测酶神经鞘氨醇己三糖苷和肺及激活调节趋化因子有助于确诊和评估 GD 治疗效果。
GD1 有 4 种治疗方法：3 种 ERT 和 1 种 SRT。米格列醇，一种 SRT，已被批准用于轻度至中度 GD1 的治疗。ERT 适用于中重度 GD1 患者，可在治疗的第 1 年内改善生活质量。最新的 ERT，taliglucerase alfa，来源于植物细胞，可大规模低成本生产。另一种 SRT，伊米苷酶，正在进行 3 期临床试验。尚无药物获批用于 GD2 或 GD3 的治疗。
