{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T20:59:48Z","timestamp":1791665988989,"version":"4.3.4"},"reference-count":120,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Grant-in-Aid for Intractable Renal Diseases Research, Research on Rare and Intractable Diseases"},{"name":"Health and Labour Sciences Research Grants from the Ministry of Health, Labour and Welfare of Japan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in which family history is unclear, a differential diagnosis between ADPKD and other cystic kidney diseases is important. When diagnosing ADPKD, cystic kidney diseases that can easily be excluded using clinical information include: multiple simple renal cysts, acquired cystic kidney disease (ACKD), multilocular renal cyst\/multilocular cystic nephroma\/polycystic nephroma, multicystic kidney\/multicystic dysplastic kidney (MCDK), and unilateral renal cystic disease (URCD). However, there are other cystic kidney diseases that usually require genetic testing, or another means of supplementing clinical information to enable a differential diagnosis of ADPKD. These include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant tubulointerstitial kidney disease (ADTKD), nephronophthisis (NPH), oral-facial-digital (OFD) syndrome type 1, and neoplastic cystic kidney disease, such as tuberous sclerosis (TSC) and Von Hippel-Lindau (VHL) syndrome. To help physicians evaluate cystic kidney diseases, this article provides a review of cystic kidney diseases for which a differential diagnosis is required for ADPKD.<\/jats:p>","DOI":"10.3390\/jcm11216528","type":"journal-article","created":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T03:28:10Z","timestamp":1667532490000},"page":"6528","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7326-4988","authenticated-orcid":false,"given":"Akinari","family":"Sekine","sequence":"first","affiliation":[{"name":"Nephrology Center, Toranomon Hospital, Tokyo 105-8470, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumi","family":"Hidaka","sequence":"additional","affiliation":[{"name":"Kidney Disease and Transplant Center, Shonan Kamakura General Hospital, Kanagawa 247-8533, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomofumi","family":"Moriyama","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Kurume University School of Medicine, Fukuoka 830-0011, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuto","family":"Shikida","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Saiseikai Nakatsu Hospital, Osaka 530-0012, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiji","family":"Shimazu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Saiseikai Nakatsu Hospital, Osaka 530-0012, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Ishikawa","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Saiseikai Matsusaka General Hospital, Mie 515-8557, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5173-1263","authenticated-orcid":false,"given":"Kiyotaka","family":"Uchiyama","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Nephrology, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9543-7608","authenticated-orcid":false,"given":"Hiroshi","family":"Kataoka","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Tokyo Women\u2019s Medical University, Tokyo 162-8666, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruna","family":"Kawano","sequence":"additional","affiliation":[{"name":"Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-0033, Japan"},{"name":"Department of Advanced Informatics for Genetic Disease, Juntendo University Graduate School of Medicine, Tokyo 113-0033, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahiro","family":"Kurashige","sequence":"additional","affiliation":[{"name":"Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo 105-8461, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Rheumatology, National Center for Child Health and Development, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuya","family":"Suwabe","sequence":"additional","affiliation":[{"name":"Nephrology Center, Toranomon Hospital, Tokyo 105-8470, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinya","family":"Nakatani","sequence":"additional","affiliation":[{"name":"Department of Metabolism, Endocrinology and Molecular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka 545-8585, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Otsuka","sequence":"additional","affiliation":[{"name":"Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4486-819X","authenticated-orcid":false,"given":"Hirayasu","family":"Kai","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Faculty of Medicine, University of Tsukuba, Ibaraki 305-8575, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6663-133X","authenticated-orcid":false,"given":"Kan","family":"Katayama","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Mie 514-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiho","family":"Makabe","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Tokyo Women\u2019s Medical University, Tokyo 162-8666, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun","family":"Manabe","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Tokyo Women\u2019s Medical University, Tokyo 162-8666, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2828-4530","authenticated-orcid":false,"given":"Wataru","family":"Shimabukuro","sequence":"additional","affiliation":[{"name":"Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Okinawa 903-0215, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8681-9129","authenticated-orcid":false,"given":"Koichi","family":"Nakanishi","sequence":"additional","affiliation":[{"name":"Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Okinawa 903-0215, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saori","family":"Nishio","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo 060-8638, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihiko","family":"Hattanda","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo 060-8638, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazushige","family":"Hanaoka","sequence":"additional","affiliation":[{"name":"Department of General Internal Medicine, Daisan Hospital, Jikei University, School of Medicine, Tokyo 105-8471, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9483-8482","authenticated-orcid":false,"given":"Kenichiro","family":"Miura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Tokyo Women\u2019s Medical University, Tokyo 162-8666, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Fujita Health University, Aichi 470-1192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0444-101X","authenticated-orcid":false,"given":"Junichi","family":"Hoshino","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Tokyo Women\u2019s Medical University, Tokyo 162-8666, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Tsuchiya","sequence":"additional","affiliation":[{"name":"Department of Blood Purification, Tokyo Women\u2019s Medical University, Tokyo 162-8666, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshio","family":"Mochizuki","sequence":"additional","affiliation":[{"name":"PKD Nephrology Clinic, Tokyo 104-0032, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeo","family":"Horie","sequence":"additional","affiliation":[{"name":"Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-0033, Japan"},{"name":"Department of Advanced Informatics for Genetic Disease, Juntendo University Graduate School of Medicine, Tokyo 113-0033, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichiei","family":"Narita","sequence":"additional","affiliation":[{"name":"Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, 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 113-0033, Japan"},{"name":"Department of Urology, Juntendo University Nerima Hospital, Tokyo 177-8521, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/S0140-6736(18)32782-X","article-title":"Autosomal dominant polycystic kidney disease","volume":"393","author":"Alam","year":"2019","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1002\/humu.22103","article-title":"Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients","volume":"33","author":"Chen","year":"2012","journal-title":"Hum. 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