MINI REVIEW article
Front. Med.
Sec. Nephrology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1631281
This article is part of the Research TopicPrevention and Treatment of Urolithiasis: Innovation and Novel TechniquesView all 15 articles
Genetics of kidney stones and the role of genetic testing in prevention: a guide for Urologists
Provisionally accepted
- 1Department of Clinical and Biological Sciences, School of Medicine, University of Turin, Turin, Piedmont, Italy
- 2Genetic Unit and Thalassemia Center, San Luigi University Hospital, Orbassano (TO), Italy
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Kidney Stone Disease (KSD) has a high prevalence (10%) and high recurrence risk: almost half of stone former patients will experience recurrence within 5-10 years. To date, KSD is managed mostly surgically with a heavy burden on the healthcare system and numerous invasive procedures for the patients.A genetic basis in KSD has been increasingly recognized, with a heritability rate reaching 50%. Through Genome-Wide Association Studies (GWAS) and Next-Generation Sequencing (NGS) several genetic causes of recurrent nephrolithiasis have been untangled, paving the way to new therapies and prevention strategies, through precision medicine-based approaches. Many loci with more than 200 unique genes have been associated with KSD susceptibility thanks to GWAS, even though the development of a polygenic risk score is still in progress. Moreover, today, about 40 genes linked to monogenic disease that are involved in kidney stones have been identified, leading to a precise diagnosis in cases that were previously considered idiopathic. Despite these advancements, genetic testing in KSD remains underutilized and inconsistently available. The absence of clear diagnostic guidelines, standardization, and widespread awareness, combined with lack of perceived benefit, has left the decision to test largely at the discretion of individual physicians. This paper reviews the updated evidences in KSD genetics and suggest a diagnostic algorithm to increase the diagnostic rate, allowing a personalized treatment and, in turn, a higher disease-free survival and a more efficient allocation of resources. Besides, it will provide a further look to promising prospects in the field of prevention methods for KSD.
Keywords: Kidney stone, Genetic Testing, Polygenic risk score, genetic predisposition, hereditary kidney stone disease
Received: 27 May 2025; Accepted: 09 Jul 2025.
Copyright: © 2025 Pintus, Giordano, Giachino and Mandrile. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Giorgia Mandrile, Genetic Unit and Thalassemia Center, San Luigi University Hospital, Orbassano (TO), Italy
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