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

doi:10.1007/s00240-025-01859-1

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Article

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

Urolithiasis - 29 Sept 2025

Paneque Tomas, Berst Kyle, Sambharia Meenakshi, Swee Melissa, Kimble Mycah, Mansilla M Adela, Freese Margaret, Thomas Christie P, Tracy Chad R, Steinberg Ryan L

Abstract excerpt

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...

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Topics

Humans
Male
Female
Adult
Middle Aged
Genetic Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Aged

Prospective Studies

Kidney Calculi

Young Adult

Calcium Phosphates

Nephrolithiasis

Genetic Variation

Source

Open in PubMed Open full text

Identifiers

PMID: 41021020
DOI: 10.1007/s00240-025-01859-1
PMCID: PMC12479612

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