The progress on the application of glucosylsphingosine in the diagnosis and treatment of Gaucher′s disease
10.3760/cma.j.cn101070-20220311-00254
- VernacularTitle:葡糖鞘氨醇在戈谢病诊疗中的应用研究进展
- Author:
Yanlong DUAN
1
;
Tianyou WANG
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院儿童肿瘤中心肿瘤内科，北京市儿童血液肿瘤重点实验室，儿科重大疾病研究教育部重点实验室，北京 100045
- Keywords:
Glucosylsphingosine;
Gaucher′s disease;
Diagnosis;
Treatment;
Biomarker
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(5):387-390
- CountryChina
- Language:Chinese
-
Abstract:
Gaucher′s disease (GD) is a rare autosomal recessive metabolic disease caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GBA). Variants in the GBA1 result in the deficiency or reduction of GBA activity, leading to the accumulation of its substrate glucocerebroside (Gb1; also known as glucosylceramide, GlcC) in mononuclear phagocytes of organs, including the liver, spleen, kidney, bone, lung, and even brain.Glucosylsphingosine (lyso-Gb1), a deacylated derivative of Gb1, is highly sensitive and specific for GD.This study reviews the role of lyso-Gb1 in the diagnosis, curative effect, prognosis evaluation and follow-up monitoring of GD, aiming to improve the understanding of the diagnosis and treatment progress of GD.
