The evolving landscape of monogenic nephrolithiasis and therapeutic innovations

被引：0
|
作者：
Wu, Chen-Han Wilfred [1 ,2 ]
Huang, Yu-Ren [1 ,2 ]
Bodner, Donald [2 ]
Schumacher, Fredrick R. [3 ]
Baum, Michelle [4 ,5 ]
Hildebrandt, Friedhelm [4 ,5 ]
机构：
[1] Case Western Reserve Univ & Univ Hosp, Dept Genet & Genome Sci, Cleveland, OH 44106 USA
[2] Case Western Reserve Univ & Univ Hosp, Dept Urol, Cleveland, OH 44106 USA
[3] Case Western Reserve Univ, Sch Med, Dept Populat & Quantitat Hlth Sci, Cleveland, OH USA
[4] Boston Childrens Hosp, Dept Pediat, Div Nephrol, Boston, MA USA
[5] Harvard Med Sch, Boston, MA USA
来源：
NATURE REVIEWS UROLOGY | 2024年 / 21卷 / 09期
关键词：
POLYMORPHISM; GENE;
D O I：
10.1038/s41585-024-00880-0
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
Monogenic causes account for up to 20% of nephrolithiasis instances and are crucial for developing targeted treatments. Whole-exome sequencing, genome-wide association, candidate gene, and in vitro and animal functional studies are crucial to identify these mutations. Therapies targeting monogenic variants, such as RNA-interference-based treatments, have been successfully used to treat monogenic disorders.
引用
收藏
页码：513 / 514
页数：2
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