{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:54:22Z","timestamp":1787165662584,"version":"build-2736575974"},"reference-count":51,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,6,21]],"date-time":"2023-06-21T00:00:00Z","timestamp":1687305600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007132","name":"Otsuka Pharmaceutical Co., Ltd.","doi-asserted-by":"publisher","award":["OAK-ISS-2018-000479"],"award-info":[{"award-number":["OAK-ISS-2018-000479"]}],"id":[{"id":"10.13039\/501100007132","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Background: Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1 in 500\u20134000 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 \u0394eGFR\/year compared to patients with PKD2 mutation, indicating a progression of renal dysfunction (\u22123.50 vs. \u22122.04 mL\/min\/1.73 m2\/year, p = 0.066). Furthermore, PKD1 truncated mutations had a significantly decreased \u0394eGFR\/year compared to PKD1 non-truncated mutations in the population aged over 65 years (\u22126.56 vs. \u22122.16 mL\/min\/1.73 m2\/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\u20133.16; 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.<\/jats:p>","DOI":"10.3390\/biom13071020","type":"journal-article","created":{"date-parts":[[2023,6,22]],"date-time":"2023-06-22T01:49:32Z","timestamp":1687398572000},"page":"1020","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease"],"prefix":"10.3390","volume":"13","author":[{"given":"Tomoki","family":"Kimura","sequence":"first","affiliation":[{"name":"Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruna","family":"Kawano","sequence":"additional","affiliation":[{"name":"Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"},{"name":"Department of Advanced Informatics for Genetic Diseases, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5400-5195","authenticated-orcid":false,"given":"Satoru","family":"Muto","sequence":"additional","affiliation":[{"name":"Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"},{"name":"Department of Advanced Informatics for Genetic Diseases, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"},{"name":"Department of Urology, Juntendo University Nerima Hospital, Tokyo 177-8521, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7717-1225","authenticated-orcid":false,"given":"Nobuhito","family":"Muramoto","sequence":"additional","affiliation":[{"name":"Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"},{"name":"Human Disease Models, Institute of Laboratory Animals, Tokyo Women\u2019s Medical University, Tokyo 162-8666, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiaki","family":"Takano","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5353-4362","authenticated-orcid":false,"given":"Yan","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0300-3587","authenticated-orcid":false,"given":"Hidetaka","family":"Eguchi","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroo","family":"Wada","sequence":"additional","affiliation":[{"name":"Department of Public Health, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3241-5502","authenticated-orcid":false,"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisamitsu","family":"Ide","sequence":"additional","affiliation":[{"name":"Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"},{"name":"Department of Digital Therapeutics, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeo","family":"Horie","sequence":"additional","affiliation":[{"name":"Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"},{"name":"Department of Advanced Informatics for Genetic Diseases, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"},{"name":"Department of Digital Therapeutics, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1007\/s10157-015-1219-7","article-title":"Evidence-based clinical practice guidelines for polycystic kidney disease 2014","volume":"20","author":"Horie","year":"2016","journal-title":"Clin. 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