Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease

Overview

Journal Biomolecules

Publisher MDPI

Specialties Biochemistry
Molecular Biology

Date 2023 Jul 29

PMID 37509056

Authors

Tomoki Kimura

Haruna Kawano

Satoru Muto

Nobuhito Muramoto

Toshiaki Takano

Yan Lu

Hidetaka Eguchi

Hiroo Wada

Yasushi Okazaki

Hisamitsu Ide

Shigeo Horie

Affiliations

Soon will be listed here.

Abstract

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 and . 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 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).

Conclusions: The analysis of germline mutations can predict renal prognosis in Japanese patients with ADPKD, and mutation is a biomarker of ADPKD.

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