Gaucher Clinic, Shaare Zedek Medical Centre, Hadassah-Hebrew University Medical School, Jerusalem, Israel.
Royal Melbourne Hospital and Department of Medicine, University of Melbourne, Melbourne, Australia.
Br J Haematol. 2018 Aug;182(4):467-480. doi: 10.1111/bjh.15402. Epub 2018 May 29.
Treatment of Gaucher Disease (GD) is now beset with the abundance of therapeutic options for an individual patient, making the choice of therapy complex for both expert and non-expert clinicians. The pathogenesis of all disease manifestations is a gene mutation-driven deficiency of glucocerebrosidase, but the clinical expression and response of each of the clinical manifestations to different therapies can be difficult to predict. Enzyme replacement therapy has been available since 1991 and is well-established, with known efficacy and minimal toxicity. Of interest, the three available enzymes are distinct molecules and were registered as new products, not biosimilars. Oral substrate reduction therapy has undergone a revitalisation with a newly approved agent in this class for which some efficacy and toxicity questions have been raised. Herein we present our approach to the management of GD in the era of choices, including a new algorithm for how to manage a newly diagnosed patient.
戈谢氏病（GD）的治疗目前面临着大量针对个体患者的治疗选择，这使得专家和非专家临床医生在选择治疗方法时都感到非常复杂。所有疾病表现的发病机制都是葡萄糖脑苷脂酶基因突变驱动的缺乏，但每种临床表现对不同治疗方法的临床反应和疗效可能难以预测。酶替代疗法自 1991 年以来已经可用，并且已经得到很好的确立，具有已知的疗效和最小的毒性。有趣的是，三种可用的酶是不同的分子，并且作为新产品注册，而不是生物类似药。口服底物减少疗法随着该类别的一种新批准的药物而重新焕发生机，该药物的一些疗效和毒性问题已经提出。在此，我们介绍了在选择时代管理 GD 的方法，包括一种新的用于管理新诊断患者的算法。
