| Summary: | Background: 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. Methods: Patients clinically diagnosed with ADPKD underwent a panel genetic test for germline mutations in <i>PKD1</i> and <i>PKD2</i>. This study was conducted with the approval of the Ethics Committee of Juntendo University (no. 2019107). Results: Of 436 patients, 366 (83.9%) had genetic mutations. Notably, patients with <i>PKD1</i> mutation had a significantly decreased ΔeGFR/year compared to patients with <i>PKD2</i> mutation, indicating a progression of renal dysfunction (−3.50 vs. −2.04 mL/min/1.73 m<sup>2</sup>/year, <i>p</i> = 0.066). Furthermore, <i>PKD1</i> truncated mutations had a significantly decreased ΔeGFR/year compared to <i>PKD1</i> non-truncated mutations in the population aged over 65 years (−6.56 vs. −2.16 mL/min/1.73 m<sup>2</sup>/year, <i>p</i> = 0.049). Multivariate analysis showed that <i>PKD1</i> mutation was a more significant risk factor than <i>PKD2</i> mutation (odds ratio, 1.81; 95% confidence interval, 1.11–3.16; <i>p</i> = 0.020). Conclusions: The analysis of germline mutations can predict renal prognosis in Japanese patients with ADPKD, and <i>PKD1</i> mutation is a biomarker of ADPKD.
|
|---|