Burrow T Andrew, Hopkin Robert J, Leslie Nancy D, Tinkle Bradley T, Grabowski Gregory A
Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229-3039, USA.
Curr Opin Pediatr. 2007 Dec;19(6):628-35. doi: 10.1097/MOP.0b013e3282f161f2.
Over the past 15 years, the lysosomal storage diseases have become paradigms for the specific treatment of monogenic disorders, particularly those affecting children. This review summarizes the phenotypes and recent literature regarding enzyme reconstitution (replacement) therapy and outcomes for such treatable lysosomal storage diseases: Gaucher disease, Fabry disease, Pompe disease and the mucopolysaccharidoses.
Recent clinical trials have shown that enzyme reconstitution therapy effectively treats many of the manifestations of the lysosomal storage diseases. When initiated early in the disease course, enzyme reconstitution therapy can reverse some disease manifestations, but may not completely alleviate the disease progression. Enzyme reconstitution therapy is generally well tolerated. Many adverse events are antibody-related, but can be managed without requiring cessation of enzyme reconstitution therapy. Documented IgE reactions, i.e. anaphylactoid, are quite rare (fewer than 1%).
Enzyme reconstitution therapy is a safe and effective treatment modality available for several of the lysosomal storage diseases. Owing to the short history of enzyme reconstitution therapy, the long-term outcomes of enzyme reconstitution therapy-treated individuals are unknown and require further investigation. Medical professionals must learn to identify patients likely to benefit from these life-changing therapies so as to prevent many of the devastating, irreversible complications of the lysosomal storage diseases.
在过去15年中，溶酶体贮积病已成为单基因疾病（尤其是影响儿童的单基因疾病）特异性治疗的典范。本综述总结了可治疗的溶酶体贮积病（戈谢病、法布里病、庞贝病和黏多糖贮积症）的表型、酶替代疗法的近期文献及治疗结果。
近期临床试验表明，酶替代疗法可有效治疗溶酶体贮积病的多种表现。在疾病病程早期开始治疗时，酶替代疗法可逆转一些疾病表现，但可能无法完全缓解疾病进展。酶替代疗法一般耐受性良好。许多不良事件与抗体相关，但在不停止酶替代疗法的情况下即可处理。有记录的IgE反应，即类过敏反应，相当罕见（低于1%）。
酶替代疗法是几种溶酶体贮积病可用的一种安全有效的治疗方式。由于酶替代疗法历史较短，接受酶替代疗法患者的长期治疗结果尚不清楚，需要进一步研究。医学专业人员必须学会识别可能从这些改变生活的疗法中获益的患者，以预防溶酶体贮积病的许多毁灭性、不可逆并发症。
