Department of Medicine I, Klinikum Vest GmbH, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, 45657 Recklinghausen, Germany.
The Mark Holland Metabolic Unit, Nothern Care Alliance NHS Foundation Trust, Salford M6 8HD, UK.
Int J Mol Sci. 2022 Feb 8;23(3):1887. doi: 10.3390/ijms23031887.
Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including the kidneys, heart and nerve system. The established treatment for 20 years is intravenous enzyme replacement therapy. Lately, oral chaperone therapy was introduced and is a therapeutic alternative in patients with amenable mutations. Early starting of therapy is essential for long-term improvement. This review describes chaperone therapy in Fabry disease.
法布瑞氏病是一种 X 连锁溶酶体贮积症，由α-半乳糖苷酶 A（GLA）基因突变引起。α-半乳糖苷酶 A（AGAL）的活性降低或缺乏会导致细胞内神经酰胺三己糖苷（GL-3）在包括肾脏、心脏和神经系统在内的许多器官中不断积累。20 年来，已确立的治疗方法是静脉内酶替代疗法。最近，口服伴侣蛋白治疗已被引入，并且是可治疗突变患者的治疗替代方法。早期开始治疗对于长期改善至关重要。这篇综述描述了法布瑞氏病的伴侣蛋白治疗。
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