{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T22:46:11Z","timestamp":1793054771618,"version":"4.5.0"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["No. LY22H050002."],"award-info":[{"award-number":["No. LY22H050002."]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CEN Case Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease, accounting for approximately 5% of kidney failure worldwide. While Alport syndrome (AS) is an inherited progressive disease that typically presents with microhematuria in childhood and subsequently progresses to hematuria, proteinuria, and progressive renal impairment. The coexistence of ADPKD and AS is rare. Here, we present a case of a child with ADPKD and AS who presented with bilateral renal cysts and hematuria. Furthermore, we described the clinical and genetic characteristics of the present case and summarized the above features of previously reported cases. A 4-year-old boy had persistent microscopic hematuria and intermittent gross hematuria for 1\u00a0year. During routine examinations, microscopic hematuria (++), bilateral renal cysts, and high-frequency hearing loss were discovered. Furthermore, His mother had microscopic hematuria and was later diagnosed with ADPKD. A pathogenic variant was found in\n                    <jats:italic>COL4A5<\/jats:italic>\n                    through genetic testing, while a variant of undermined significance (VUS) was discovered in\n                    <jats:italic>PKD1<\/jats:italic>\n                    . These clinical and genetic findings are consistent with the diagnosis of ADPKD and AS co-occurring. Enalapril was administered. A 2-year follow-up revealed that the patient had continuous microscopic hematuria and normal range renal function. We also reviewed four cases of ADPKD and AS coexisting. Moreover, hematuria and decreased renal function were the most common clinical features. They all had a positive family history. This disease has a poor prognosis, with three cases progressing to kidney failure. ADPKD and AS are often associated with hematuria, renal cysts, and decreased renal function. Comprehensive clinical information and early genetic testing is critical for diagnosis, prognostic stratification, and initiating targeted therapies to delay progression.\n                  <\/jats:p>","DOI":"10.1007\/s13730-025-01057-3","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T05:19:29Z","timestamp":1768886369000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Coincidence of autosomal dominant polycystic kidney disease and Alport syndrome: a case report and literature review"],"prefix":"10.1007","volume":"15","author":[{"given":"Rui","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9098-9155","authenticated-orcid":false,"given":"Fei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"issue":"10174","key":"1057_CR1","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1016\/S0140-6736(18)32782-X","volume":"393","author":"EC-L Gall","year":"2019","unstructured":"Gall EC-L, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019;393(10174):919\u201335.","journal-title":"Lancet"},{"issue":"3","key":"1057_CR2","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1038\/nrneph.2012.259","volume":"9","author":"J Kruegel","year":"2013","unstructured":"Kruegel J, Rubel D, Gross O. Alport syndrome\u2013insights from basic and clinical research. Nat Rev Nephrol. 2013;9(3):170\u20138.","journal-title":"Nat Rev Nephrol"},{"issue":"1","key":"1057_CR3","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1681\/ASN.2008050507","volume":"20","author":"Y Pei","year":"2009","unstructured":"Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009;20(1):205\u201312.","journal-title":"J Am Soc Nephrol"},{"issue":"7","key":"1057_CR4","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1038\/nrneph.2012.109","volume":"8","author":"J Savige","year":"2012","unstructured":"Savige J. Alport syndrome: about time\u2013treating children with Alport syndrome. Nat Rev Nephrol. 2012;8(7):375\u20136.","journal-title":"Nat Rev Nephrol"},{"issue":"3","key":"1057_CR5","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1681\/ASN.2012020148","volume":"24","author":"J Savige","year":"2013","unstructured":"Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24(3):364\u201375.","journal-title":"J Am Soc Nephrol"},{"issue":"6","key":"1057_CR6","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1093\/ndt\/gfae265","volume":"40","author":"R Torra","year":"2025","unstructured":"Torra R, Lipska-Zietkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall E, et al. Diagnosis, management and treatment of the Alport syndrome\u20132024 guideline on behalf of ERKNet, ERA and ESPN. Nephrol Dial Transpl. 2025;40(6):1091\u2013106.","journal-title":"Nephrol Dial Transpl"},{"issue":"6","key":"1057_CR7","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.1016\/j.kint.2019.12.015","volume":"97","author":"O Gross","year":"2020","unstructured":"Gross O, Tonshoff B, Weber LT, Pape L, Latta K, Fehrenbach H, et al. A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport\u2019s syndrome. Kidney Int. 2020;97(6):1275\u201386.","journal-title":"Kidney Int"},{"issue":"1","key":"1057_CR8","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1186\/s12882-019-1285-2","volume":"20","author":"J Dudley","year":"2019","unstructured":"Dudley J, Winyard P, Marlais M, Cuthell O, Harris T, Chong J, et al. Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD). BMC Nephrol. 2019;20(1):148.","journal-title":"BMC Nephrol"},{"issue":"11","key":"1057_CR9","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1038\/s41581-019-0155-2","volume":"15","author":"C Gimpel","year":"2019","unstructured":"Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, et al. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol. 2019;15(11):713\u201326.","journal-title":"Nat Rev Nephrol"},{"issue":"2","key":"1057_CR10","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/j.kint.2024.07.010","volume":"107","author":"VE Torres","year":"2025","unstructured":"Torres VE, Ahn C, Barten TRM, Brosnahan G, Cadnapaphornchai MA, Chapman AB, et al. KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary. Kidney Int. 2025;107(2):234\u201354.","journal-title":"Kidney Int"},{"issue":"1","key":"1057_CR11","doi-asserted-by":"publisher","first-page":"36","DOI":"10.2215\/CJN.0000000000000022","volume":"18","author":"D Mekahli","year":"2023","unstructured":"Mekahli D, Guay-Woodford LM, Cadnapaphornchai MA, Greenbaum LA, Litwin M, Seeman T, et al. Tolvaptan for children and adolescents with autosomal dominant polycystic kidney disease: randomized controlled trial. Clin J Am Soc Nephrol. 2023;18(1):36\u201346.","journal-title":"Clin J Am Soc Nephrol"},{"issue":"8","key":"1057_CR12","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1111\/nep.12661","volume":"21","author":"PJ Phelan","year":"2016","unstructured":"Phelan PJ, Fletcher E, Carroll N, Metcalfe W, Turner AN. Simultaneous adult polycystic kidney disease and Alport syndrome. 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Clin Nephrol. 2017;88(1):45\u201351.","journal-title":"Clin Nephrol"},{"issue":"26","key":"1057_CR15","doi-asserted-by":"publisher","first-page":"2687","DOI":"10.1056\/NEJMoa071906","volume":"357","author":"E Plaisier","year":"2007","unstructured":"Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med. 2007;357(26):2687\u201395.","journal-title":"N Engl J Med"},{"issue":"3","key":"1057_CR16","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1093\/ckj\/sfu033","volume":"7","author":"AM Sevillano","year":"2014","unstructured":"Sevillano AM, Gutierrez E, Morales E, Hernandez E, Molina M, Gonzalez E, et al. Multiple kidney cysts in thin basement membrane disease with proteinuria and kidney function impairment. Clin Kidney J. 2014;7(3):251\u20136.","journal-title":"Clin Kidney J"},{"issue":"1","key":"1057_CR17","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.ekir.2019.09.004","volume":"5","author":"A Gulati","year":"2020","unstructured":"Gulati A, Sevillano AM, Praga M, Gutierrez E, Alba I, Dahl NK, et al. Collagen IV gene mutations in adults with bilateral renal cysts and CKD. Kidney Int Rep. 2020;5(1):103\u20138.","journal-title":"Kidney Int Rep"},{"issue":"2","key":"1057_CR18","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1053\/j.ajkd.2017.11.015","volume":"72","author":"E Cornec-Le Gall","year":"2018","unstructured":"Cornec-Le Gall E, Chebib FT, Madsen CD, Senum SR, Heyer CM, Lanpher BC, et al. The value of genetic testing in polycystic kidney diseases illustrated by a family with PKD2 and COL4A1 mutations. 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Clin Kidney J. 2013;6(6):630\u20134.","journal-title":"Clin Kidney J"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-01057-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13730-025-01057-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-01057-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T18:02:45Z","timestamp":1768932165000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13730-025-01057-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,20]]},"references-count":19,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,2]]}},"alternative-id":["1057"],"URL":"https:\/\/doi.org\/10.1007\/s13730-025-01057-3","relation":{},"ISSN":["2192-4449"],"issn-type":[{"value":"2192-4449","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,20]]},"assertion":[{"value":"3 December 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 October 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing financial interests and no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from participants included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}],"article-number":"24"}}