{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:05:50Z","timestamp":1762506350110},"reference-count":0,"publisher":"Walter de Gruyter GmbH","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,9,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We report the case of an infant boy with polyuria and a familial history of central diabetes insipidus. Laboratory blood tests disclosed hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Plasma magnesium concentration was slightly low. Urine analysis showed hypercalciuria, hyposthenuria, and high excretion of potassium. Such findings oriented toward type III Bartter syndrome (BSIII). Direct sequencing of the <jats:italic>CLCNKB<\/jats:italic> gene revealed no disease-causing mutations. The water deprivation test was positive. Magnetic resonance imaging showed a lack of posterior pituitary hyperintensity. Finally, direct sequencing of the <jats:italic>AVP-NPII<\/jats:italic> gene showed a point mutation (c.1884G&gt;A) in a heterozygous state, confirming an autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). This condition did not explain the patient\u2019s phenotype; thus, we investigated for Gitelman syndrome (GS). A direct sequencing of the <jats:italic>SLC12A3<\/jats:italic> gene showed c.269A&gt;C and c.1205C&gt;A new mutations. In conclusion, the patient had a genetic combination of GS and adFNDI with a BSIII-like phenotype.<\/jats:p>","DOI":"10.1515\/jpem-2014-0052","type":"journal-article","created":{"date-parts":[[2014,5,21]],"date-time":"2014-05-21T12:56:34Z","timestamp":1400676994000},"page":"971-975","source":"Crossref","is-referenced-by-count":3,"title":["Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus"],"prefix":"10.1515","volume":"27","author":[{"given":"Milena","family":"Brugnara","sequence":"first","affiliation":[{"name":"Pediatric Division, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossella","family":"Gaudino","sequence":"additional","affiliation":[{"name":"Pediatric Division, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Tedeschi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, IRCCS Ca\u2019 Granda Maggiore Policlinico Hospital Foundation, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Louise","family":"Syr\u00e8n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silverio","family":"Perrotta","sequence":"additional","affiliation":[{"name":"Department of Woman, Child and of General and Specialist Surgery, Second University of Naples, Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelina","family":"Maines","sequence":"additional","affiliation":[{"name":"Pediatric Division, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Zaffanello","sequence":"additional","affiliation":[{"name":"Pediatric Division, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2014,5,13]]},"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0052\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0052\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T05:15:00Z","timestamp":1653974100000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0052\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,13]]},"references-count":0,"journal-issue":{"issue":"9-10","published-online":{"date-parts":[[2014,5,13]]},"published-print":{"date-parts":[[2014,9,20]]}},"alternative-id":["10.1515\/jpem-2014-0052"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2014-0052","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,5,13]]}}}