Gaucher Unit, Shaare Zedek Medical Center, Shmu'el Bait St 12, 9103102 Jerusalem, Israel.
School of Medicine, Hebrew University, 9112102 Jerusalem, Israel.
Int J Mol Sci. 2020 Sep 28;21(19):7159. doi: 10.3390/ijms21197159.
The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact clinical outcomes. This systematic literature review evaluated the value of glucosylsphingosine (lyso-Gb1), as the most reliable biomarker currently available for the diagnosis, prognosis, and disease/treatment monitoring of patients with GD. Literature searches were conducted using MEDLINE, Embase, PubMed, ScienceOpen, Science.gov, Biological Abstracts, and Sci-Hub to identify original research articles relevant to lyso-Gb1 and GD published before March 2019. Seventy-four articles met the inclusion criteria, encompassing 56 related to pathology and 21 related to clinical biomarkers. Evidence for lyso-Gb1 as a pathogenic mediator of GD was unequivocal, although its precise role requires further elucidation. Lyso-Gb1 was deemed a statistically reliable diagnostic and pharmacodynamic biomarker in GD. Evidence supports lyso-Gb1 as a disease-monitoring biomarker for GD, and some evidence supports lyso-Gb1 as a prognostic biomarker, but further study is required. Lyso-Gb1 meets the criteria for a biomarker as it is easily accessible and reliably quantifiable in plasma and dried blood spots, enables the elucidation of GD molecular pathogenesis, is diagnostically valuable, and reflects therapeutic responses. Evidentiary standards appropriate for verifying inter-laboratory lyso-Gb1 concentrations in plasma and in other anatomical sites are needed.
戈谢病（GD）是一种常染色体隐性遗传的糖脂代谢先天性错误，其诊断、预后和监测方面的挑战可能会对临床结果产生负面影响。本系统文献回顾评估了葡糖脑苷脂（lyso-Gb1）的价值，lyso-Gb1 是目前用于 GD 患者诊断、预后和疾病/治疗监测的最可靠生物标志物。使用 MEDLINE、Embase、PubMed、ScienceOpen、Science.gov、Biological Abstracts 和 Sci-Hub 进行文献检索，以确定发表于 2019 年 3 月之前与 lyso-Gb1 和 GD 相关的原始研究文章。74 篇文章符合纳入标准，其中 56 篇与病理学相关，21 篇与临床生物标志物相关。lyso-Gb1 作为 GD 的致病介质的证据是确凿的，尽管其确切作用仍需进一步阐明。lyso-Gb1 被认为是 GD 中一种具有统计学意义的可靠诊断和药效学生物标志物。有证据支持 lyso-Gb1 作为 GD 的疾病监测生物标志物，并且一些证据支持 lyso-Gb1 作为预后生物标志物，但需要进一步研究。lyso-Gb1 符合生物标志物的标准，因为它在血浆和干血斑中易于获取且可可靠定量，能够阐明 GD 的分子发病机制，具有诊断价值，并反映治疗反应。需要制定适当的标准来验证血浆和其他解剖部位 lyso-Gb1 浓度的实验室间一致性。
