{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:47:48Z","timestamp":1791978468797,"version":"4.4.0"},"reference-count":10,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T00:00:00Z","timestamp":1677196800000},"content-version":"vor","delay-in-days":7,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"JSPS","award":["22K07897"],"award-info":[{"award-number":["22K07897"]}]},{"name":"JSPS","award":["RO1-DK46718"],"award-info":[{"award-number":["RO1-DK46718"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Bartter syndrome type 1 is caused by mutations in the solute carrier family 12 member 1 (SLC12A1), encoding the sodium-potassium-chloride cotransporter-2 (NKCC2). In addition to causing renal salt-losing tubulopathy, SLC12A1 mutations are known to cause nephrocalcinosis due to hypercalciuria, as well as failure to thrive associated with abnormal calcium and phosphorus homeostasis. We report a now 7-year-old Japanese girl with polyuria, hyponatremia, hypokalemia, and metabolic alkalosis, in whom compound heterozygous novel SLC12A1 mutations were identified. Elevated parathyroid hormone (PTH) levels were consistently noted after the age of 1 year in conjunction with gradually declining serum calcium and increasing serum phosphorus levels. To confirm suspected PTH-resistance, Ellsworth Howard tests were performed at the ages of 6 years 8 months and 6 years 10 months in the absence or presence of ibuprofen, respectively. Urinary adenosine 3\u2032,5\u2032-cyclic monophosphate excretion increased on both occasions in response to PTH(1-34) infusion suggesting pseudohypoparathyroidism type II. However, only during treatment with ibuprofen did PTH induce an almost normal phosphaturic response. The nonsteroidal anti-inflammatory drugs thus enhanced growth velocity, alleviated hypercalciuria, and increased PTH-stimulated urinary phosphorus excretion without significantly affecting renal function.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad019","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T18:02:26Z","timestamp":1677261746000},"source":"Crossref","is-referenced-by-count":4,"title":["Bartter Syndrome Type 1 Due to Novel <i>SLC12A1<\/i> Mutations Associated With Pseudohypoparathyroidism Type II"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1302-7512","authenticated-orcid":false,"given":"Zentaro","family":"Kiuchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Kyorin University School of Medicine , Mitaka, Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0290-3137","authenticated-orcid":false,"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Hyogo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunimasa","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kyorin University School of Medicine , Mitaka, Tokyo , Japan"},{"name":"Department of Pediatrics, Kosei Hospital , Suginami, Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Massachusetts General Hospital and Harvard Medical School , Boston, MA , USA"},{"name":"Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School , Boston, MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2023,2,24]]},"reference":[{"key":"2024010813060506500_luad019-B1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.908655","article-title":"Genetic heterogeneity in Bartter syndrome: clinical and practical importance","volume":"10","author":"Florea","year":"2022","journal-title":"Front Pediatr"},{"issue":"6","key":"2024010813060506500_luad019-B2","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.2214\/ajr.152.6.1251","article-title":"Hypercalciuric Bartter syndrome: resolution of nephrocalcinosis with indomethacin","volume":"152","author":"Matsumoto","year":"1989","journal-title":"Am J Roentgenol"},{"issue":"4","key":"2024010813060506500_luad019-B3","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1007\/s00467-018-4135-8","article-title":"Effect of nonsteroidal anti-inflammatory drugs in children with Bartter 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Bartter's syndrome\u2014restoration of phosphaturic response to parathyroid hormone (PTH) by treatment for hypopotassemia","volume":"68","author":"Bando","year":"1992","journal-title":"Nihon Naibunpi Gakkai Zasshi"},{"issue":"2","key":"2024010813060506500_luad019-B7","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1507\/endocrj1954.26.147","article-title":"Effect of calcium administration on renal responsiveness to parathyroid hormone in pseudohypoparathyroidism type I and II\u2014in comparison with normals, idiopathic and surgical hypoparathyroidism","volume":"26","author":"Yamada","year":"1979","journal-title":"Endocrinol Jpn"},{"issue":"2","key":"2024010813060506500_luad019-B8","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1210\/jcem-61-2-285","article-title":"Dissociation between the effects of endogenous parathyroid hormone on adenosine 3\u2032,5\u2032-monophosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: an 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