{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T02:45:42Z","timestamp":1776048342869,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Autosomal Dominant Polycystic Kidney Disease (ADPKD) and X\u2010Linked Alport Syndrome (AS) are the most common monogenic causes of chronic kidney disease (CKD), each capable of independently leading to end\u2010stage kidney disease (ESKD). However, the concurrent presence of both disorders in a single individual is exceedingly rare and poses significant diagnostic complexity. We report a unique case involving dual diagnosis of ADPKD and AS, attributed to a paternal\n                    <jats:italic>PKD1<\/jats:italic>\n                    variant and a maternally inherited\n                    <jats:italic>COL4A5<\/jats:italic>\n                    variant. Initial genetic testing through next\u2010generation sequencing (NGS) identified\n                    <jats:italic>PKD1<\/jats:italic>\n                    and\n                    <jats:italic>COL4A5<\/jats:italic>\n                    variants in the Proband. While Sanger sequencing confirmed the\n                    <jats:italic>PKD1<\/jats:italic>\n                    variant in the father, Sanger analysis of the Mother did not detect the\n                    <jats:italic>COL4A5<\/jats:italic>\n                    variant despite her clinical signs, including persistent microhematuria and basement membrane abnormalities on electron microscopy. Further investigation using high\u2010sensitivity approaches, like customised amplicon\u2010based deep sequencing, confirmed low\u2010level mosaicism for the\n                    <jats:italic>COL4A5<\/jats:italic>\n                    variant in the Mother. This case underscores the critical role of advanced genetic testing in resolving atypical or dual presentations of kidney disease and highlights the need to consider mosaicism in unexplained inheritance patterns. Comprehensive family evaluation and precision diagnostics are essential for accurate counselling and management in such complex cases. This report contributes to the expanding spectrum of dual monogenic kidney disease.\n                  <\/jats:p>","DOI":"10.1111\/nep.70178","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T11:33:39Z","timestamp":1772969619000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Inheritance Puzzle: A Case of Dual Genetic Kidney Disease"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2466-3701","authenticated-orcid":false,"given":"Sabarinath","family":"Shanmugam","sequence":"first","affiliation":[{"name":"Department of Nephrology JIPMER  Puducherry India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6916-3948","authenticated-orcid":false,"given":"Karthikeyan","family":"Manoharan","sequence":"additional","affiliation":[{"name":"Department of Nephrology JIPMER  Puducherry India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sreejith","family":"Parameswaran","sequence":"additional","affiliation":[{"name":"Department of Nephrology JIPMER  Puducherry India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh Nachiappa","family":"Ganesh","sequence":"additional","affiliation":[{"name":"Department of Pathology JIPMER  Puducherry India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandhya","family":"Nair","sequence":"additional","affiliation":[{"name":"Medgenome Labs Ltd.  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alok","family":"Sharma","sequence":"additional","affiliation":[{"name":"Renal Pathology and Electron Microscopy, Dr. Lal Path Labs Ltd.  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,3,1]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq330"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab1049"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts526"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn665"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010017\u20101779\u20106"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21438"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(20)30045-3"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes15050597"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2019.09.004"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2023-259500"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2025.04.022"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xkme.2024.100815"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2024.07.010"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.252484899"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2019.11.019"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2024.02.005"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70178","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.70178","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70178","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T02:09:05Z","timestamp":1776046145000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.70178"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1111\/nep.70178"],"URL":"https:\/\/doi.org\/10.1111\/nep.70178","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"2025-09-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70178"}}