葡糖鞘氨醇在戈谢病诊疗中的应用研究进展

The progress on the application of glucosylsphingosine in the diagnosis and treatment of Gaucher′s disease

戈谢病(GD)是一种常染色体隐性遗传代谢病,因溶酶体中葡糖脑苷脂酶(β-glucocerebrosidase,GBA)功能缺陷导致。当GBA1基因发生突变,其编码的GBA活性发生缺失或下降,造成底物葡糖脑苷脂(glucocerebroside,Gb1;也称为葡糖神经酰胺,glucosylceramide,GlcC)在各脏器的单核巨噬细胞中贮积,包括肝、脾、肾、骨骼、肺,甚至脑。葡糖鞘氨醇(lyso-Gb1)是Gb1的脱酰衍生物,对GD具有高度的灵敏度和特异性。现就lyso-Gb1在GD的诊断、疗效及预后评估、随访监测中的作用进行综述,以提高临床医师对GD诊疗进展的认识。

Gaucher′s disease(GD)is a rare autosomal recessive metabolic disease caused by the functional deficiency of the lysosomal enzymeβ-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.