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PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease

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 progno...

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Autores principales: Kimura, Tomoki, Kawano, Haruna, Muto, Satoru, Muramoto, Nobuhito, Takano, Toshiaki, Lu, Yan, Eguchi, Hidetaka, Wada, Hiroo, Okazaki, Yasushi, Ide, Hisamitsu, Horie, Shigeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377076/
https://www.ncbi.nlm.nih.gov/pubmed/37509056
http://dx.doi.org/10.3390/biom13071020
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author Kimura, Tomoki
Kawano, Haruna
Muto, Satoru
Muramoto, Nobuhito
Takano, Toshiaki
Lu, Yan
Eguchi, Hidetaka
Wada, Hiroo
Okazaki, Yasushi
Ide, Hisamitsu
Horie, Shigeo
author_facet Kimura, Tomoki
Kawano, Haruna
Muto, Satoru
Muramoto, Nobuhito
Takano, Toshiaki
Lu, Yan
Eguchi, Hidetaka
Wada, Hiroo
Okazaki, Yasushi
Ide, Hisamitsu
Horie, Shigeo
author_sort Kimura, Tomoki
collection PubMed
description 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 PKD1 and PKD2. 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 PKD1 mutation had a significantly decreased ΔeGFR/year compared to patients with PKD2 mutation, indicating a progression of renal dysfunction (−3.50 vs. −2.04 mL/min/1.73 m(2)/year, p = 0.066). Furthermore, PKD1 truncated mutations had a significantly decreased ΔeGFR/year compared to PKD1 non-truncated mutations in the population aged over 65 years (−6.56 vs. −2.16 mL/min/1.73 m(2)/year, p = 0.049). Multivariate analysis showed that PKD1 mutation was a more significant risk factor than PKD2 mutation (odds ratio, 1.81; 95% confidence interval, 1.11–3.16; p = 0.020). Conclusions: The analysis of germline mutations can predict renal prognosis in Japanese patients with ADPKD, and PKD1 mutation is a biomarker of ADPKD.
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spelling pubmed-103770762023-07-29 PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease Kimura, Tomoki Kawano, Haruna Muto, Satoru Muramoto, Nobuhito Takano, Toshiaki Lu, Yan Eguchi, Hidetaka Wada, Hiroo Okazaki, Yasushi Ide, Hisamitsu Horie, Shigeo Biomolecules Article 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 PKD1 and PKD2. 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 PKD1 mutation had a significantly decreased ΔeGFR/year compared to patients with PKD2 mutation, indicating a progression of renal dysfunction (−3.50 vs. −2.04 mL/min/1.73 m(2)/year, p = 0.066). Furthermore, PKD1 truncated mutations had a significantly decreased ΔeGFR/year compared to PKD1 non-truncated mutations in the population aged over 65 years (−6.56 vs. −2.16 mL/min/1.73 m(2)/year, p = 0.049). Multivariate analysis showed that PKD1 mutation was a more significant risk factor than PKD2 mutation (odds ratio, 1.81; 95% confidence interval, 1.11–3.16; p = 0.020). Conclusions: The analysis of germline mutations can predict renal prognosis in Japanese patients with ADPKD, and PKD1 mutation is a biomarker of ADPKD. MDPI 2023-06-21 /pmc/articles/PMC10377076/ /pubmed/37509056 http://dx.doi.org/10.3390/biom13071020 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kimura, Tomoki
Kawano, Haruna
Muto, Satoru
Muramoto, Nobuhito
Takano, Toshiaki
Lu, Yan
Eguchi, Hidetaka
Wada, Hiroo
Okazaki, Yasushi
Ide, Hisamitsu
Horie, Shigeo
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
title PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
title_full PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
title_fullStr PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
title_full_unstemmed PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
title_short PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
title_sort pkd1 mutation is a biomarker for autosomal dominant polycystic kidney disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377076/
https://www.ncbi.nlm.nih.gov/pubmed/37509056
http://dx.doi.org/10.3390/biom13071020
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