{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T03:11:27Z","timestamp":1788405087952,"version":"build-2803163510"},"reference-count":62,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T00:00:00Z","timestamp":1704931200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well known that common RCDs such as autosomal polycystic kidney disease and autosomal recessive kidney disease are linked to genes such as PKD1 and PKHD1, respectively. However, it is important to investigate the genetic pathophysiology of how these gene mutations lead to clinical symptoms and include some of the less-studied RCDs, such as autosomal dominant tubulointerstitial kidney disease, multicystic dysplastic kidney, Zellweger syndrome, calyceal diverticula, and more. We plan to take a thorough look into the genetic involvement and clinical sequalae of a number of RCDs with the goal of helping to guide diagnosis, counseling, and treatment.<\/jats:p>","DOI":"10.3390\/genes15010091","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T12:56:33Z","timestamp":1704977793000},"page":"91","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The Pathophysiology of Inherited Renal Cystic Diseases"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-2886-7406","authenticated-orcid":false,"given":"Matthew","family":"Satariano","sequence":"first","affiliation":[{"name":"Department of Medicine, Northeast Ohio Medical University, Rootstown, OH 44272, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0290-7853","authenticated-orcid":false,"given":"Shaarav","family":"Ghose","sequence":"additional","affiliation":[{"name":"Department of Medicine, Northeast Ohio Medical University, Rootstown, OH 44272, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3892-8376","authenticated-orcid":false,"given":"Rupesh","family":"Raina","sequence":"additional","affiliation":[{"name":"Akron Nephrology Associates, Cleveland Clinic Akron General Medical Center, Akron, OH 44307, USA"},{"name":"Department of Nephrology, Akron Children\u2019s Hospital, Akron, OH 44308, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1053\/j.ajkd.2020.10.021","article-title":"Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021","volume":"78","author":"Raina","year":"2021","journal-title":"Am. 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