{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T12:04:49Z","timestamp":1792929889061,"version":"4.5.0"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"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":[[2024,12]]},"abstract":"Abstract<\/jats:title>\n \n A 9\u2010month\u2010old male presented with vomiting and dehydration with mild hypernatremia in the context of failure to thrive. He was later diagnosed with nephrogenic diabetes insipidus (NDI) during this hospitalisation and was also found to have eosinophilic esophagitis (EoE). He has since been growing well after EoE and NDI were properly managed. Molecular genetic testing revealed an unreported deletion in\n AQP2<\/jats:italic>\n which was deemed pathogenic and of autosomal dominant inheritance when correlated with his clinical findings and family history. This case report describes the clinical course of this patient in comparison to his family members and reviews current literature on autosomal dominant NDI caused by\n AQP2<\/jats:italic>\n mutations.\n <\/jats:p>","DOI":"10.1111\/nep.14389","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T00:34:12Z","timestamp":1726014852000},"page":"964-967","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Autosomal dominant nephrogenic diabetes insipidus in one family caused by a novel\n \n AQP2<\/i>\n <\/scp>\n mutation"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-0731-4971","authenticated-orcid":false,"given":"Hou\u2010Xuan","family":"Huang","sequence":"first","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics National Taiwan University Hospital Taipei Taiwan"},{"name":"Division of Nephrology, Department of Pediatrics Emory University School of Medicine Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics Emory University School of Medicine Atlanta Georgia USA"},{"name":"Division of Nephrology, Department of Pediatrics Stanford School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Zayas Borges","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics Emory University School of Medicine Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics Emory University School of Medicine Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,10]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"GeneReviews\u00ae","author":"Knoers N","year":"2000"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V1161044"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18112385"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/323643"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0602331103"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670100051"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2008.03.006"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2016.02.010"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.3904\/kjim.2015.30.2.259"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.14389","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.14389","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.14389","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T01:30:10Z","timestamp":1788744610000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.14389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,10]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/nep.14389"],"URL":"https:\/\/doi.org\/10.1111\/nep.14389","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,10]]},"assertion":[{"value":"2024-03-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}