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.
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The authors acknowledge J. Badreddine for their assistance in the preparation of this manuscript.
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C.-H.W.W. has clinical trials with Moderna Tx and is in the executive committee of the Harrington Scholar-Innovator award programme. D.B. has Fortec litho stock. M.B. has clinical trials with NovoNordisk, is a scientific advisor with NovoNordisk, has an ongoing post-marketing study with Alynylam, is a scientific advisor with Alnylam and is a medical advisor with Cantero (previously Orfan) and Chinook. F.H. has a University of Michigan patent, a patent of NPHP4 planned and is part of the Brigham & Women’s Hospital Boards course. The other authors declare no competing interests.
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Wu, CH.W., Huang, YR., Bodner, D. et al. The evolving landscape of monogenic nephrolithiasis and therapeutic innovations. Nat Rev Urol (2024). https://doi.org/10.1038/s41585-024-00880-0
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DOI: https://doi.org/10.1038/s41585-024-00880-0
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