Wu Chen-Han Wilfred, Huang Yu-Ren, Bodner Donald, Schumacher Fredrick R, Baum Michelle, Hildebrandt Friedhelm
Department of Genetics and Genome Sciences, Case Western Reserve University and University Hospitals, Cleveland, OH, USA.
Department of Urology, Case Western Reserve University and University Hospitals, Cleveland, OH, USA.
Nat Rev Urol. 2024 Sep;21(9):513-514. doi: 10.1038/s41585-024-00880-0.
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.
单基因病因在肾结石病例中占比高达20%,对于开发靶向治疗至关重要。全外显子组测序、全基因组关联研究、候选基因研究以及体外和动物功能研究对于识别这些突变至关重要。针对单基因变异的疗法,如基于RNA干扰的治疗方法,已成功用于治疗单基因疾病。