Grabowski G A
Division of Human Genetics, Children's Hospital Research Foundation, Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Drugs. 1996 Aug;52(2):159-67. doi: 10.2165/00003495-199652020-00001.
Enzyme therapy has altered forever the management of patients with Gaucher disease. Studies in over 1200 treated Gaucher disease patients have demonstrated regression of hepatic, splenic, bony and haematological abnormalities, with a return towards health in many affected patients. The therapy is well tolerated, with approximately 7% of patients having adverse effects. However, the lack of standardised clinical staging and tracking procedures, and a poor understanding of the basic biochemistry and cell biology of the administered enzyme, continue to inhibit optimisation of treatment. Ultimately, preventive intervention with enzyme therapy will require absolute safety and much less expensive preparations, and accurate predictive genotype testing to fully optimise this mode of therapy. The success and pitfalls encountered in enzyme therapy for Gaucher disease provide a map for the development of such therapies for other inborn errors of metabolism.
酶疗法已经永久性地改变了戈谢病患者的治疗方式。对1200多名接受治疗的戈谢病患者的研究表明，肝脏、脾脏、骨骼和血液学异常有所消退，许多受影响的患者恢复了健康。这种疗法耐受性良好，约7%的患者有不良反应。然而，缺乏标准化的临床分期和跟踪程序，以及对所施用酶的基础生物化学和细胞生物学了解不足，仍然阻碍着治疗的优化。最终，酶疗法的预防性干预将需要绝对的安全性、成本低得多的制剂，以及准确的预测性基因检测，以充分优化这种治疗方式。戈谢病酶疗法所取得的成功和遇到的问题为其他先天性代谢缺陷疾病的此类疗法发展提供了指引。
