{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T11:21:25Z","timestamp":1714130485844},"reference-count":24,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p>Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder most often caused by mutations in the arginine-vasopressin receptors or aquaporin channels, which subsequently impairs the water reabsorption in the kidney. This case report describes a 15-year-old female diagnosed with NDI after an acute gastroenteritis and multiple fluid boluses leading to intractable emesis. Gene testing reveals our patient is compound heterozygous for novel <jats:italic>AQP2<\/jats:italic> gene mutations with a cytosine-to-thymine substitution at nucleotide position 277 and adenine-to-cytosine substitution at nucleotide position 659. Therefore, we report a novel <jats:italic>AQP2<\/jats:italic> gene mutation in an adolescent patient which is outside the common age for diagnosis.<\/jats:p>","DOI":"10.1515\/jpem-2019-0099","type":"journal-article","created":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T09:02:37Z","timestamp":1564131757000},"page":"1031-1034","source":"Crossref","is-referenced-by-count":2,"title":["Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation"],"prefix":"10.1515","volume":"32","author":[{"given":"Benjamin C.","family":"Long","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zachary J.","family":"Weber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Oberlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deena E.","family":"Sutter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet M.","family":"Berg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref141","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/ckj\/sfs029","article-title":"Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus \u2013 update and epidemiology","volume":"5","year":"2012","journal-title":"Clin Kidney J"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/ckj\/sfs029","article-title":"Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus \u2013 update and epidemiology","volume":"5","year":"2012","journal-title":"Clin Kidney J"},{"key":"ref191","first-page":"39","article-title":"Diabetes insipidus in children","volume":"29","year":"2016","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1186\/s12882-015-0213-3","article-title":"Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel","volume":"16","year":"2015","journal-title":"BMC Nephrol"},{"key":"ref01","first-page":"1","article-title":"Hereditary nephrogenic diabetes insipidus: pathophysiology and possible treatment. 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