Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.

ABSTRACT: Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic form of KD. Although rare causal variants in the PKD1 and PKD2 genes have been identified, their penetrance and the disease progression and outcome are known to vary, and treatment efficacy in these carriers lags compared to patients with other forms of chronic KD (CKD). To develop a population screening strategy with high sensitivity to individuals likely to develop disease, we characterize the presentation and progression of ADPKD in variant carriers, identified in a multi-center all-comers cohort, as well as the UK Biobank. We show that the positive predictive value of hypertension for future diagnosis of KD is extremely high: 74% and 66% for PKD1 and PKD2, respectively. It is also highly preemptive, with hypert

SUBMITTER: Telis N 

PROVIDER: S-EPMC12278628 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature