Department of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, "G. D'Alessandro", University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy.
Int J Mol Sci. 2020 Oct 29;21(21):8080. doi: 10.3390/ijms21218080.
Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical practice as a screening tool, in the context of the diagnostic process and as an indicator of response to treatment. An interesting field of application of such biomarkers is the management of female heterozygotes who present difficulty in predictable clinical progression. This review aims to summarise the current evidence and knowledge about general and specific markers that are actually measured in subjects with confirmed or suspected Fabry disease; moreover, we report potential novel markers such as microRNAs. Recent proteomic or metabolomic studies are in progress bringing out plasma proteome profiles in Fabry patients: this assessment may be useful to characterize molecular pathology of the disease, to improve diagnostic process, and to monitor response to treatment. The management of Fabry disease may be improved by the identification of biomarkers that reflect clinical course, severity, and the progression of the disease.
法布瑞氏病是一种罕见的溶酶体贮积病，由α-半乳糖苷酶 A 缺乏引起，导致多系统受累。溶酶体Gb3（神经酰胺三己糖苷）是 Gb3 的去酰化形式，目前作为经典法布瑞氏病的生物标志物在血浆中进行测量。多年来，人们一直在对生物标志物进行深入研究，以寻找新的标志物，这些标志物可能在临床上用作筛查工具，用于诊断过程，并作为治疗反应的指标。这些生物标志物的一个有趣的应用领域是管理女性杂合子，她们的临床进展难以预测。本综述旨在总结目前关于在确诊或疑似法布瑞氏病患者中实际测量的一般和特定标志物的证据和知识；此外，我们还报告了一些潜在的新型标志物，如 microRNAs。最近的蛋白质组学或代谢组学研究正在进行中，以揭示法布瑞氏病患者的血浆蛋白质组图谱：这种评估可能有助于表征疾病的分子病理学，改善诊断过程，并监测治疗反应。通过识别反映疾病临床过程、严重程度和进展的生物标志物，可以改善法布瑞氏病的管理。
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