Application of plasma glucosylsphingosine detection in the follow-up of patients with Gaucher disease

Abstract

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.