Article

Prevalence of Monogenic Aetiologies of Kidney Stone Disease in Selected and Unselected Kidney Stone Cohorts

2026-03-17

Abstract excerpt

<h4>Background and objective</h4> Kidney stone disease (KSD) is common and distinct monogenic forms with well-defined treatment pathways exist. However, it is unclear which patients should undergo genetic testing and the significance of monoallelic variants in SLC34A1, SLC34A3, CYP24A1, SLC7A9, and SLC3A1 . We aimed to define monogenic KSD inheritance patterns, determine the diagnostic yield of genetic testing i...

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Literature Corpus work: 497186f6-4985-59d2-b360-358be8c9bb99
DOI: 10.64898/2026.03.14.26348230

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