Zimran A, Hadas-Halpern I, Zevin S, Levy-Lahad E, Abrahamov A
Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Centre, Jerusalem, Israel.
Br J Haematol. 1993 Dec;85(4):783-6. doi: 10.1111/j.1365-2141.1993.tb03224.x.
Six children with a mean age of 4.6 years (range 2.5-7), suffering from severe Gaucher disease, were treated with low-dose high-frequency intravenous enzyme replacement (Ceredase, Genzyme, U.S.A.) for a period of 10-24 months. Although, in general, these patients were more severely affected than previously reported patients, the results of the treatment were as satisfactory as those obtained by using much higher doses at low frequency. In addition to regression of organomegaly and improvement of haematological abnormalities, we observed two unique clinical responses in three patients: two showed decreased tendency to bacterial infections, associated with improvement in neutrophil chemotaxis, and one patient, with type 3 Gaucher disease, showed some improvement in neurological findings. Several measures were taken to ameliorate the burden of the high-frequency treatment. These included implantation of venous access devices, establishment of a home-treatment programme and the application of effective local anaesthesia. Therefore the low-dose high-frequency protocol appears to be both an effective and feasible alternative to the costly high-dose low-frequency protocols even in very young children.
6名平均年龄为4.6岁（范围2.5 - 7岁）的重症戈谢病患儿，接受了低剂量高频静脉内酶替代治疗（美国健赞公司生产的Ceredase），为期10 - 24个月。尽管总体而言，这些患者的病情比之前报道的患者更为严重，但治疗结果与使用低频率的高得多的剂量所获得的结果一样令人满意。除了器官肿大消退和血液学异常改善外，我们在3名患者中观察到两种独特的临床反应：两名患者表现出细菌感染倾向降低，同时中性粒细胞趋化性改善；一名3型戈谢病患者的神经学表现有一定改善。采取了多项措施来减轻高频治疗的负担。这些措施包括植入静脉通路装置、制定家庭治疗方案以及应用有效的局部麻醉。因此，即使对于非常年幼的儿童，低剂量高频方案似乎也是昂贵的高剂量低频方案的一种有效且可行的替代方案。
