Article
Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD.
Clinical journal of the American Society of Nephrology : CJASN - 8 Mar 2021
Lanktree Matthew B, Guiard Elsa, Akbari Pedram, Pourafkari Marina, Iliuta Ioan-Andrei, Ahmed Syed, Haghighi Amirreza, He Ning, Song Xuewen, Paterson Andrew D, Khalili Korosh, Pei York P C
Abstract excerpt
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,...
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