Prevalence and characteristics of genetic disease in adult kidney stone formers.

Manuel A AndereggEric G OlingerMatteo BargagliRob GeraghtyLea TaylorAlexander NaterRémy BruggmannJohn A SayerBruno VogtAndré SchallerDaniel G Fuster

Published in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2024)

Mendelian disease is uncommon in unselected adult KSF, yet variants predisposing to nephrolithiasis are significantly enriched in adult KSF.

Keyphrases

copy number
childhood cancer
risk factors
genome wide
gene expression
young adults