期刊
UROLITHIASIS
卷 47, 期 1, 页码 67-78出版社
SPRINGER
DOI: 10.1007/s00240-018-1089-z
关键词
Rare disorder; Primary hyperoxaluria; Drug discovery; Molecular basis of disease; Substrate-reduction therapies; Pharmacological chaperones
资金
- Oxalosis and Hyperoxaluria Foundation [OHF2016]
- Italian Minister of Instruction University and Research, SIR projects [RBSI148BK3]
Primary hyperoxalurias (PHs) are rare inherited disorders of liver glyoxylate metabolism, characterized by the abnormal production of endogenous oxalate, a metabolic end-product that is eliminated by urine. The main symptoms are related to the precipitation of calcium oxalate crystals in the urinary tract with progressive renal damage and, in the most severe form named Primary Hyperoxaluria Type I (PH1), to systemic oxalosis. The therapies currently available for PH are either poorly effective, because they address the symptoms and not the causes of the disease, or highly invasive. In the last years, advances in our understanding of the molecular bases of PH have paved the way for the development of new therapeutic strategies. They include (i) substrate-reduction therapies based on small-molecule inhibitors or the RNA interference technology, (ii) gene therapy, (iii) enzyme administration approaches, (iv) colonization with oxalate-degrading intestinal microorganisms, and, in PH1, (v) design of pharmacological chaperones. This paper reviews the basic principles of these new therapeutic strategies and what is currently known about their application to PH.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据