This article explores the role of genetics in kidney stones and kidney cancer predisposition, focusing on monogenic genetic causes that can be identified through genetic testing. We provide a comprehensive review of monogenic causes of kidney stones and kidney cancer as well as the current treatment options. A curated list of 64 monogenic causes of kidney stones, including 11 provisional genes, and 50 genes for kidney cancer predisposition, also including 11 provisional genes, is presented. Selected genes are discussed in detail, highlighting their clinical presentations, underlying genetic mechanisms, and available treatment options. These include gene-specific therapies, such as drugs targeting AGXT for primary hyperoxaluria type 1 and VHL for renal cell carcinoma, alongside nonspecific treatments for conditions such as Bartter syndrome and Lynch syndrome. As gene discovery continues to progress, it holds the potential to inform future preventive guidelines, novel therapeutic approaches, and precision medicine strategies, ultimately advancing the field of nephrology and improving patient outcomes. Semin Nephrol 36:x-xx © 20XX Elsevier Inc. All rights reserved.
Seminars in nephrology. 2025 Jul 14 [Epub ahead of print]
Chen-Han Wilfred Wu, Yu-Ren Mike Huang, Hachem Ziadeh, Bor-En Jong, Prapti Dalal, Hsin-Ti Cindy Lin, Amar Majmundar, Yao-Chou Tsai, Adonis Hijaz, Marshall L Stoller, Michael Romero, Friedhelm Hildebrandt
Department of Urology, Case Western Reserve University/University Hospitals, Cleveland, OH; Department of Genetics and Genome Sciences, Case Western Reserve University/University Hospitals, Cleveland, OH. Electronic address: ., Department of Urology, Case Western Reserve University/University Hospitals, Cleveland, OH; Department of Genetics and Genome Sciences, Case Western Reserve University/University Hospitals, Cleveland, OH., Department of Urology, Case Western Reserve University/University Hospitals, Cleveland, OH; Department of Genetics and Genome Sciences, Case Western Reserve University/University Hospitals, Cleveland, OH; Division of Urology, Taipei Tzu Chi Hospital, New Taipei City, Taiwan., Division of Nephrology, Department of Pediatrics, Boston Childrens' Hospital/Harvard Medical School, Boston, MA., Division of Urology, Taipei Tzu Chi Hospital, New Taipei City, Taiwan., Department of Urology, Case Western Reserve University/University Hospitals, Cleveland, OH., Department of Urology, University of California San Francisco, San Francisco, CA., Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine, Rochester, MN; Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN.