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

页码：513 / 514

页数：2