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.

中文翻译：

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单基因肾结石的演变和治疗创新

单基因原因占肾结石病例的 20%，对于开发针对性治疗至关重要。全外显子组测序、全基因组关联、候选基因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，例如基于 RNA 干扰的治疗，已成功用于治疗单基因疾病。