Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

doi:10.1093/ndt/gfab019

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Article

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 25 Mar 2022

Domingo-Gallego Andrea, Pybus Marc, Bullich Gemma, Furlano Mónica, Ejarque-Vila Laia, Lorente-Grandoso Laura, Ruiz Patricia, Fraga Gloria, López González Mercedes, Piñero-Fernández Juan Alberto, Rodríguez-Peña Lidia, Llano-Rivas Isabel, Sáez Raquel, Bujons-Tur Anna, Ariceta Gema, Guirado Lluis, Torra Roser, Ars Elisabet

Abstract excerpt

BACKGROUND: Inherited kidney diseases are one of the leading causes of chronic kidney disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early-onset CKD is complicated due to the high phenotypic overlap, but genetic testing is a powerful diagnostic tool. We aimed to develop a genetic testing strategy to maximize the diagnostic yield for patients presenting with early-onset CKD...

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PMID: 33532864
DOI: 10.1093/ndt/gfab019

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