Journal article
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 …
Authors
Lanktree MB; Guiard E; Akbari P; Pourafkari M; Iliuta I-A; Ahmed S; Haghighi A; He N; Song X; Paterson AD
Journal
Clinical Journal of the American Society of Nephrology, Vol. 16, No. 3, pp. 374–383
Publisher
Wolters Kluwer
Publication Date
March 2021
DOI
10.2215/cjn.11100720
ISSN
1555-9041