Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD.

ABSTRACT:

Background and objectives

Progression of autosomal dominant polycystic kidney disease (ADPKD) is highly variable. On average, protein-truncating PKD1 mutations are associated with the most severe kidney disease among all mutation classes. Here, we report that patients with protein-truncating PKD1 mutations may also have mild kidney disease, a finding not previously well recognized.

Design, setting, participants, & measurements

From the extended Toronto Genetic Epidemiologic Study of Polycystic Kidney Disease, 487 patients had PKD1 and PKD2 sequencing and typical ADPKD imaging patterns by magnetic resonance imaging or computed tomography. Mayo Clinic Imaging Classification on the basis of age- and height-adjusted total kidney volume was used to ass

SUBMITTER: Lanktree MB 

PROVIDER: S-EPMC8011025 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature