Photo Credit: Claudio Ventrella

The following is a summary of “Use of Genetic Testing in Nephrolithiasis Evaluation: A Retrospective Review from a Multidisciplinary Kidney Stone Clinic,” published in the July 2024 issue of Urology by Payne et al.

To elucidate the genetic and clinical profiles of patients undergoing genetic testing at the multidisciplinary kidney stone clinic, researchers conducted a retrospective review of patient records from 2018 to 2022. This review included demographic, clinical, stone-related, and genetic data. The study group focused on identifying specific genetic variants, distinguishing between pathogenic variants and variants of unknown significance (VUS).

Out of 825 patients evaluated at the clinic during the study period, 50 were referred for genetic testing. Of these, 33 patients underwent genetic testing, constituting the study cohort. Genetic variants were detected in 19 of these 33 patients (58%), with 9 of the 33 (27%) found to be known pathogenic variants. Among patients with pathogenic variants, a significant proportion had a family history of nephrolithiasis (55.6%), were primarily calcium stone formers (77.8%), experienced their first stone episode before the age of 18 (66.7%), and were recurrent stone formers (100%). Additionally, these patients had generally received prior medical (88.9%) or surgical (88.9%) interventions before genetic testing. Comparative analysis revealed no significant differences in demographic or clinical characteristics between patients with pathogenic variants, VUS, and those without identifiable variants.

The findings indicate that over half of the patients who underwent genetic testing had detectable variants, though most were classified as VUS. This underscores the need for further research to determine the clinical implications of genetic testing in managing nephrolithiasis and to refine the application of genetic insights in patient care.

Source: sciencedirect.com/science/article/abs/pii/S0090429524005958