{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T13:23:41Z","timestamp":1792157021531,"version":"4.4.0"},"reference-count":16,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,3,1]]},"abstract":"<jats:p>Neonatal primary hyperparathyroidism (NPHT) is associated with an inactivating homozygous mutation of the calcium sensing receptor (CaSR). The CaSR is expressed most abundantly in the parathyroid glands and the kidney and regulates calcium homeostasis through its ability to modulate parathormone secretion and renal calcium reabsorption. NPHT leads to life threatening hypercalcemia, nephrocalcinosis, bone demineralization, and neurologic disabilities. Surgery is the treatment of choice. While waiting for surgery, bisphosphonates offer a good alternative to deal with hypercalcemia. Cinacalcet is a class II calcimimetic that increases CaSR affinity for calcium, leading to parathormone suppression and increased calcium renal excretion. At present, there is little evidence as to whether cinacalcet could improve the function of mutant CaSR in NPHT. We report a case of NPHT, treated successfully with bisphosphonates and cinacalcet after surgery failure. To our knowledge, it is the first time cinacalcet has been used for NPHT.<\/jats:p>","DOI":"10.1542\/peds.2011-0128","type":"journal-article","created":{"date-parts":[[2012,2,14]],"date-time":"2012-02-14T01:25:38Z","timestamp":1329182738000},"page":"e812-e816","source":"Crossref","is-referenced-by-count":74,"title":["Successful Use of Bisphosphonate and Calcimimetic in Neonatal Severe Primary Hyperparathyroidism"],"prefix":"10.1542","volume":"129","author":[{"given":"Alexandra","family":"Wilhelm-Bals","sequence":"first","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics, Children Hospital, Geneva, Switzerland; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paloma","family":"Parvex","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics, Children Hospital, Geneva, Switzerland; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Magdelaine","sequence":"additional","affiliation":[{"name":"Division of Biochemical Molecular Genetics, Centre Hospitalier Universitaire Dupuytren, Limoges, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Girardin","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics, Children Hospital, Geneva, Switzerland; and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2012,3,1]]},"reference":[{"issue":"1","key":"2021120903020077600_B1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1152\/physrev.2001.81.1.239","article-title":"Extracellular calcium sensing and extracellular calcium signaling","volume":"81","author":"Brown","year":"2001","journal-title":"Physiol Rev"},{"issue":"1","key":"2021120903020077600_B2","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.berh.2007.11.006","article-title":"Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations","volume":"22","author":"Egbuna","year":"2008","journal-title":"Best Pract Res Clin Rheumatol"},{"issue":"4","key":"2021120903020077600_B3","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/00041552-200307000-00002","article-title":"Extracellular calcium-sensing receptors in the parathyroid gland, kidney, and other tissues","volume":"12","author":"Quarles","year":"2003","journal-title":"Curr Opin Nephrol Hypertens"},{"issue":"4","key":"2021120903020077600_B4","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A","article-title":"Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia","volume":"16","author":"Hendy","year":"2000","journal-title":"Hum Mutat"},{"issue":"3","key":"2021120903020077600_B5","doi-asserted-by":"crossref","first-page":"302","DOI":"10.2174\/138920109787847475","article-title":"Roles of calcium-sensing receptor (CaSR) in renal mineral ion transport","volume":"10","author":"Vezzoli","year":"2009","journal-title":"Curr Pharm Biotechnol"},{"issue":"3","key":"2021120903020077600_B6","first-page":"180","article-title":"Primary hyperparathyroidism in neonates and childhood. 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