Health AI Central
Peer-Reviewed Publication
Clin J Am Soc Nephrol2025;20(11):1516-1526.November 1, 2025Journal Article

ADPKD Progression by Variant Type and Molecular Domain Among Participants in the HALT PKD Trial.

Robert L Sucholeiki1, Elena Jochum1, Peili Chen1, Oliver Wessely2, Shelly Galasinski3, Arlene B Chapman1
1Medicine Section of Nephrology, University of Chicago, Chicago, Illinois.
2Cleveland Clinic Lerner Research Institute, Cleveland, Ohio.
3Fabric Genomics, Oakland, California.
PubMed PMC DOI PDF

Abstract

KEY POINTS: Patients with autosomal dominant polycystic kidney disease (ADPKD) experience substantial variation in disease progression. The location of pathogenic nontruncating variants in PKD1 significantly predicts disease progression in patients with early-stage ADPKD. Pathogenic variant location in PKD1 merits further exploration in determining prognosis in patients with ADPKD. BACKGROUND: Au…

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