Monogenic nephrolithiasis-collision of phenotypes, genotypes, and phenocopies

Mallett, Andrew

Abstract

[Extract] Kidney stone disease is not uncommon in the general population and can be underpinned by multiple potential and predisposing underlying biochemical phenomena and phenotypes. The unraveling of these phenotypes and their potential monogenic and polygenic relationships is revealing a much more complex landscape than was previously appreciated. Even for the most significant of major underpinning urinary phenotypes, such as hypercalciuria, this is revealing complexity even though pathways toward precision medicine for affected individuals are being conceptualized.

Journal

Kidney International Reports

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2468-0249

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Publisher

Elsevier

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DOI

10.1016/j.ekir.2021.09.012