Objective: Explore the application of plasma glucosylsphingosine level in the follow-up treatment of patients with Gaucher disease. Methods: Two groups of patients with Gaucher disease were enrolled, who regularly received imiglucerase treatment in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine between January 2017 and July 2020. Group 1 was 6 initially treated patients, including 1 case of chitotriosidase deficiency, aged 10-43 years old, 4 females and 2 males. The blood routine test, chitotriosidase activity and plasma glucosylsphingosine level were measured during pre-and post-treatment. Group 2 were 6 cases of Gaucher disease including 3 cases of chitotriosidase deficiency, who received long-term specific treatment in the same hospital, aged 17 to 32 years, 2 females and 4 males. The plasma glucosylsphingosine level was detected in the follow-up treatment during January 2017 to July 2020. Results: Patients in group 1 had a significant increase in plasma platelets after 12 months of treatment (P<0.05), and also a significant increase in plasma hemoglobin after 30 months of treatment (P<0.05). The chitotriosidase activity of 5 patients in group 1 significantly decreased after 18 months of treatment (P<0.05), the median value of the chitotriosidase activity decreased by 7 278 nmol·ml(-1)·h(-1) at 30 months of treatment. While only 3 months after treatment, the plasma glucosylsphingosine levels of 6 patients in group 1 decreased significantly (P<0.05), the median value of the glucosylsphingosine levels decreased by 259.7 μg/L at 30 months of treatment. The plasma glucosylsphingosine levels in group 1 patients were positively correlated with chitotriosidase activity, with spearman of 0.863, P<0.001. In group 2, 6 patients with Gaucher disease that had been treated for a long period of time, showed normal peripheral blood routine tests, normal liver and spleen volume. However, the plasma glucosphingosine levels in group 2 patients decreased significantly during 2017-2020 (P<0.05). Compare to the initial values, the median value of the last glucosphingosine levels in group 2 patients had been reduced by 23.4 μg/L. Conclusion: The detection of plasma glucosylsphingosine levels in patients with Gaucher disease could be used for short-term and long-term follow-up of treatment.
目的： 探索血浆葡糖鞘氨醇水平在戈谢病患者治疗随访中的应用。 方法： 收集在2017年1月至2020年7月上海交通大学医学院附属新华医院规律使用伊米甘酶治疗的戈谢病患者，分两组，组1为6例初治患者，包括1例壳三糖酶缺失型，年龄10~43岁，女4例，男2例，分析治疗前后患者血常规、壳三糖酶活性和血浆葡糖鞘氨醇水平；组2为6例长期接受特异性治疗的戈谢病患者，其中包括3例壳三糖酶缺失型，年龄17~32岁，女2例，男4例，分析2017年1月至2020年7月治疗期间患者血浆葡糖鞘氨醇水平。 结果： 组1患者治疗12个月后血小板升高（P<0.05），治疗30个月血红蛋白升高（P<0.05）；治疗18个月后5例患者的壳三糖酶活性降低（P<0.05），治疗30个月壳三糖酶活性中位数下降7 278 nmol·ml(-1)·h(-1)；而血浆葡糖鞘氨醇水平在治疗仅3个月后即开始降低（P<0.05），治疗30个月葡糖鞘氨醇水平中位数下降259.7 μg/L。组1患者血浆葡糖鞘氨醇水平变化与壳三糖酶活性呈正相关，Spearman相关系数为0.863，P<0.001。组2患者外周血血常规正常，肝脾未及肿大，2017至2020年血浆葡糖鞘氨醇水平较首次测定值均下降（均P<0.05），末次检测值中位数下降23.4 μg/L。 结论： 戈谢病患者血浆葡糖鞘氨醇水平测定可用于患者短期治疗和长期治疗的随访治疗监测。.
Keywords: Chitotriosidase; Gaucher disease; Glucosylsphingosine.