PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1 in 500-4000 people worldwide. Genetic mutation is a biomarker for predicting renal dysfunction in patients with ADPKD. In this study, we performed a genetic analysis of Japanese patients with ADPKD to investigate the prognostic utility of genetic mutations in predicting renal function outcomes. Patients clinically diagnosed with ADPKD underwent a panel genetic test for germline mutations in and . This study was conducted with the approval of the Ethics Committee of Juntendo University (no. 2019107). Of 436 patients, 366 (83.9%) had genetic mutations. Notably, patients with mutation had a significantly decreased ΔeGFR/year compared to patients with mutation, indicating a progression of renal dysfunction (-3.50 vs. -2.04 mL/min/1.73 m /year, = 0.066). Furthermore, truncated mutations had a significantly decreased ΔeGFR/year compared to non-truncated mutations in the population aged over 65 years (-6.56 vs. -2.16 mL/min/1.73 m /year, = 0.049). Multivariate analysis showed that mutation was a more significant risk factor than mutation (odds ratio, 1.81; 95% confidence interval, 1.11-3.16; = 0.020). The analysis of germline mutations can predict renal prognosis in Japanese patients with ADPKD, and mutation is a biomarker of ADPKD.