{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T04:34:51Z","timestamp":1764304491592,"version":"build-2065373602"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,2,21]],"date-time":"2018-02-21T00:00:00Z","timestamp":1519171200000},"content-version":"vor","delay-in-days":51,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>\n                    Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt\u2010losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss\u2010of\u2010function mutations of the\n                    <jats:italic>SLC12A1<\/jats:italic>\n                    gene, encoding the furosemide\u2010sensitive Na\u2010K\u2010Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and\/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.\n                  <\/jats:p>","DOI":"10.1155\/2018\/9175271","type":"journal-article","created":{"date-parts":[[2018,2,21]],"date-time":"2018-02-21T18:35:59Z","timestamp":1519238159000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5692-4251","authenticated-orcid":false,"given":"Gianluca","family":"Vergine","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Fabbri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annalisa","family":"Pedini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Tedeschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niccol\u00f2","family":"Borsa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,2,21]]},"reference":[{"volume-title":"Bartter Syndrome","year":"2007","author":"Colussi G.","key":"e_1_2_7_1_2"},{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-011-1871-4"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1159\/000094001"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/301872"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1681\/asn.2005101071"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.100"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/pl00013418"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000320117"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00639.2012"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00272.2002"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.3109\/00365590903127446"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2014-0052"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2018\/9175271.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2018\/9175271.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2018\/9175271","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:18:40Z","timestamp":1762474720000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2018\/9175271"}},"subtitle":[],"editor":[{"given":"Ozgur","family":"Cogulu","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1155\/2018\/9175271"],"URL":"https:\/\/doi.org\/10.1155\/2018\/9175271","archive":["Portico"],"relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"type":"print","value":"2090-6803"},{"type":"electronic","value":"2090-6811"}],"subject":[],"published":{"date-parts":[[2018,1]]},"assertion":[{"value":"2017-08-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-12-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-02-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9175271"}}