Risk of Nephrolithiasis in Adults Heterozygous for SLC34A3 Ser192Leu in an Unselected Health System Cohort

What is it about?

Kidney stones, a common disease that causes a lot of pain and complications, are caused by environmental and dietar factors as well as genetics. We examine what happens to patients with one abnormal version of a gene called SLC34A3. We find that patients with one abnormal version of SLC34A3 had a doubling of kidney stone risk, lower phosphorus levels, and also had lower kidney function. Further studies are needed to determine whether personalized approaches based on genetics (i.e. treating low phosphate levels in SLC34A3) could reduce kidney stone burden and risk of kidney function decline.

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