{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:18:18Z","timestamp":1791260298887,"version":"4.1.0"},"reference-count":31,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Surg."],"abstract":"<jats:p>Congenital nephrogenic diabetes insipidus (NDI) primarily arises from an X-linked recessive inheritance caused by mutations in the <jats:italic>AVPR2<\/jats:italic> gene, which is responsible for approximately 90% of cases. This condition has an incidence rate of 4\u20138 per million male live births, with females being much less frequently affected. Symptoms typically manifest shortly after birth, predominantly in males. The key clinical features of NDI include excessive urination (polyuria), compensatory excessive thirst (polydipsia), cognitive impairment, consistently low urine specific gravity, dehydration, and imbalances in electrolyte levels. This case study highlights an unusual occurrence of NDI in a 50-year-old Chinese woman attributed to a mutation in the <jats:italic>AVPR2<\/jats:italic> gene. For more than a year, she had been suffering from excessive urination and severe thirst. The patient, who had undergone surgery for cervical cancer, developed polyuria and hypernatremia postoperatively. Initial laboratory analyses revealed normal blood sodium and chloride levels but reduced urine osmolality and specific gravity. Imaging assessments revealed no irregularities. To validate the diagnosis of NDI, she participated in a water deprivation and vasopressin test. Subsequent genetic tests revealed a thymine (T) to adenine (A) mutation, leading to a missense mutation in the <jats:italic>AVPR2<\/jats:italic> gene. As part of her treatment, she was placed on a low-sodium diet and prescribed oral hydrochlorothiazide and indomethacin for 1\u2005month, resulting in a marked improvement in her symptoms. To the best of our knowledge, this is the first documented case of NDI diagnosed postoperatively in an older female patient with <jats:italic>AVPR2<\/jats:italic> heterozygosity. This case highlights an unusual instance of an X-linked recessive clinical presentation of NDI in an elderly female patient. This study also underscores the importance of conducting water deprivation, vasopressin tests, and genetic testing in establishing the underlying cause for individuals diagnosed with NDI.<\/jats:p>","DOI":"10.3389\/fsurg.2024.1462525","type":"journal-article","created":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T05:10:30Z","timestamp":1728969030000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Extreme hypernatremia after a laparoscopic hysterectomy and bilateral salpingo-oophorectomy: a case report and literature review"],"prefix":"10.3389","volume":"11","author":[{"given":"Fei","family":"Ding","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Nie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuemei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minjin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,10,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"104093","DOI":"10.1016\/j.lpm.2021.104093","article-title":"Diabetes insipidus","volume":"50","author":"Christ-Crain","year":"2021","journal-title":"Presse Med"},{"key":"B2","doi-asserted-by":"publisher","first-page":"707452","DOI":"10.3389\/fped.2021.707452","article-title":"Case report: a case of congenital nephrogenic diabetes insipidus caused by Thr273Met mutation in arginine vasopressin receptor 2","volume":"15","author":"Huang","year":"2021","journal-title":"Front Pediatr"},{"key":"B3","doi-asserted-by":"publisher","first-page":"e13523","DOI":"10.7759\/cureus.13523","article-title":"Diabetes insipidus: pathogenesis, diagnosis, and clinical management","volume":"13","author":"Mutter","year":"2021","journal-title":"Cureus"},{"key":"B4","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1111\/cen.13991","article-title":"Copeptin and its role in the diagnosis of diabetes insipidus and the syndrome of inappropriate antidiuresis","volume":"91","author":"Refardt","year":"2019","journal-title":"Clin Endocrinol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"311","DOI":"10.33160\/yam.2023.05.015","article-title":"Perioperative infusion management for adhesive bowel obstruction with congenital nephrogenic diabetes insipidus: a case report","volume":"66","author":"Miyauchi","year":"2023","journal-title":"Yonago Acta Med"},{"key":"B6","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/j.pcl.2018.09.006","article-title":"Nephrogenic diabetes insipidus","volume":"66","author":"Kavanagh","year":"2019","journal-title":"Pediatr Clin North Am"},{"key":"B7","doi-asserted-by":"publisher","first-page":"111825","DOI":"10.1016\/j.mce.2022.111825","article-title":"Genetic basis of nephrogenic diabetes insipidus","volume":"560","author":"Hureaux","year":"2023","journal-title":"Mol Cell Endocrinol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1007\/s10157-012-0726-z","article-title":"Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2","volume":"17","author":"Sasaki","year":"2013","journal-title":"Clin Exp Nephrol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1373","DOI":"10.1007\/s00431-015-2534-4","article-title":"Novel mutations associated with nephrogenic diabetes insipidus. 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