Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis.

ABSTRACT: Up to 40% of all kidney stone disease may have an underlying genetic contribution. Brushite stone formers are known to have high rates of stone recurrence and urine chemistry abnormalities, suggesting a possible intrinsic kidney abnormality which may contribute to brushite stone formation. In this study, we sought to determine the burden of genetic variants amongst brushite stone formers. An IRB approved prospective study of brushite stone formers was conducted. Patients with any brushite on stone analysis were eligible for enrollment. Genetic testing was done on peripheral blood derived DNA and assessed using a clinically available nephrolithiasis gene panel. Primary analysis assessed rates of genetic variants amongst brushite stone formers. Secondary analysis assessed for distinct patter

SUBMITTER: Paneque T 

PROVIDER: S-EPMC12479612 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature