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Lookup NU author(s): Dr Rob GeraghtyORCiD, Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© The Author(s) 2024.Purpose of Review: Kidney stone disease (KSD) is a common and potentially life-threatening condition, and half of patients experience a repeat kidney stone episode within 5–10 years. Despite the ~50% estimate heritability of KSD, international guidelines have not kept up with the pace of discovery of genetic causes of KSD. The European Association of Urology guidelines lists 7 genetic causes of KSD as ‘high risk’. Recent Findings: There are currently 46 known monogenic (single gene) causes of kidney stone disease, with evidence of association in a further 23 genes. There is also evidence for polygenic risk of developing KSD. Evidence is lacking for recurrent disease, and only one genome wide association study has investigated this phenomenon, identifying two associated genes (SLC34A1 and TRPV5). However, in the absence of other evidence, patients with genetic predisposition to KSD should be treated as ‘high risk’. Further studies are needed to characterize both monogenic and polygenic associations with recurrent disease, to allow for appropriate risk stratification. Durability of test result must be balanced against cost. This would enable retrospective analysis if no genetic cause was found initially. Summary: We recommend genetic testing using a gene panel for all children, adults < 25 years, and older patients who have factors associated with high risk disease within the context of a wider metabolic evaluation. Those with a genetic predisposition should be managed via a multi-disciplinary team approach including urologists, radiologists, nephrologists, clinical geneticists and chemical pathologists. This will enable appropriate follow-up, counselling and potentially prophylaxis.
Author(s): Geraghty R, Lovegrove C, Howles S, Sayer JA
Publication type: Review
Publication status: Published
Journal: Current Urology Reports
Year: 2024
Pages: epub ahead of print
Online publication date: 03/08/2024
Acceptance date: 05/07/2024
ISSN (print): 1527-2737
ISSN (electronic): 1534-6285
Publisher: Springer
URL: https://doi.org/10.1007/s11934-024-01225-5
DOI: 10.1007/s11934-024-01225-5
Data Access Statement: No datasets were generated or analysed during the current study
