{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T08:55:30Z","timestamp":1791449730798,"version":"4.3.3"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:00:00Z","timestamp":1791417600000},"content-version":"vor","delay-in-days":280,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100008908","name":"Universit\u00e0 degli Studi di Messina","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008908","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder of renal water handling, often presenting in early infancy with severe polyuria and hypernatremia. Differentiating CNDI from central diabetes insipidus (CDI) remains challenging, and delayed identification may result in inappropriate therapy, leading to adverse growth and neurodevelopmental outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>We present the case of an 8\u2010month\u2010old male infant with a history of suspected CDI since birth. He was treated with desmopressin (dDAVP) without clinical benefit. The absence of the posterior pituitary bright spot at magnetic resonance imaging supported the CDI diagnosis. Considering persistent polyuria with recurrent episodes of hypernatremia and low urine osmolality, a diagnosis of CNDI was proposed, and plasma copeptin (CP) levels were determined. Measurement of CP showed markedly increased concentrations, suggesting renal tubular resistance to vasopressin. dDAVP therapy was discontinued and patient\u2019s management was adjusted to include hydrochlorothiazide therapy and a high\u2010calorie diet restricted in sodium and protein. The patient showed progressive clinical improvement with reduction of polyuria and stabilization of serum sodium levels, although linear growth delay persisted. A final diagnosis of CNDI was confirmed by molecular analysis that identified rare compound heterozygous variants in the AQP2 gene, c.85G\u2009&gt;\u2009A variant (maternal) and c.553C\u2009&gt;\u2009G (paternal).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This case highlights the diagnostic pitfalls of CNDI in infancy and underscores the pivotal role of early CP assessment and molecular genetic testing in distinguishing CNDI from CDI. Prompt recognition of CNDI is essential to avoid ineffective dDAVP therapy and to initiate a targeted multidisciplinary approach. Rare\n                      <jats:italic>AQP2<\/jats:italic>\n                      mutations further expand the genotypic spectrum of CNDI and emphasize the need for heightened clinical awareness and early referral to specialized centers.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crpe\/9068249","type":"journal-article","created":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T08:35:38Z","timestamp":1791448538000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Misdiagnosed Pediatric Congenital Nephrogenic Diabetes Insipidus due to AQP2 Variants"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1244-8184","authenticated-orcid":false,"given":"Valeria","family":"Chirico","sequence":"first","affiliation":[{"name":"Department of Human Pathology of Adult and Childhood \u201cGaetano Barresi\u201d University of Messina  Messina Italy  unime.it"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1244-8414","authenticated-orcid":false,"given":"Fabiola","family":"Cassaro","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adult and Childhood \u201cGaetano Barresi\u201d University of Messina  Messina Italy  unime.it"},{"name":"Department of Biomedical and Dental Sciences and Morpho-Functional Imaging University of Messina  Messina 98124 Italy  unime.it"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3148-049X","authenticated-orcid":false,"given":"Serena","family":"Sbilordo","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adult and Childhood \u201cGaetano Barresi\u201d University of Messina  Messina Italy  unime.it"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1705-8770","authenticated-orcid":false,"given":"Antonio","family":"Lacquaniti","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Nephrology and Dialysis Unit Papardo Hospital  Messina Italy  aopapardo.it"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-8629-5281","authenticated-orcid":false,"given":"Lorena","family":"Silipigni","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adult and Childhood \u201cGaetano Barresi\u201d University of Messina  Messina Italy  unime.it"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0720-9387","authenticated-orcid":false,"given":"Lucia","family":"Marseglia","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adult and Childhood \u201cGaetano Barresi\u201d University of Messina  Messina Italy  unime.it"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8713-8138","authenticated-orcid":false,"given":"Karol","family":"Galletta","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Dental Sciences and Morpho-Functional Imaging University of Messina  Messina 98124 Italy  unime.it"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6939-1009","authenticated-orcid":false,"given":"Francesca","family":"Granata","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Dental Sciences and Morpho-Functional Imaging University of Messina  Messina 98124 Italy  unime.it"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3882-0940","authenticated-orcid":false,"given":"Paola","family":"Tirelli","sequence":"additional","affiliation":[{"name":"Department of Woman, Child and of General and Specialized Surgery University of the Study of Campania \u201cLuigi Vanvitelli\u201d  Via Luigi De Crecchio 2 Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7823-972X","authenticated-orcid":false,"given":"Grazia","family":"Cirillo","sequence":"additional","affiliation":[{"name":"Department of Woman, Child and of General and Specialized Surgery University of the Study of Campania \u201cLuigi Vanvitelli\u201d  Via Luigi De Crecchio 2 Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0276-9211","authenticated-orcid":false,"given":"Salvatore","family":"Arena","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adult and Childhood \u201cGaetano Barresi\u201d University of Messina  Messina Italy  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