{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:26Z","timestamp":1784557046523,"version":"3.55.0"},"reference-count":32,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,7,1]]},"abstract":"Summary<\/jats:title>\n \n Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutations that result in life-threatening hypercalcemia and metabolic bone disease. Until recently, therapy has been surgical parathyroidectomy. Three previous case reports have shown successful medical management of NSHPT with cinacalcet. Here we present the detailed description of two unrelated patients with NSHPT due to heterozygous R185Q\n CASR<\/jats:italic>\n mutations. Patient 1 was diagnosed at 11 months of age and had developmental delays, dysphagia, bell-shaped chest, and periosteal bone reactions. Patient 2 was diagnosed at 1 month of age and had failure to thrive, osteopenia, and multiple rib fractures. Cinacalcet was initiated at 13 months of age in patient 1, and at 4 months of age in patient 2. We have successfully normalized their parathyroid hormone and alkaline phosphatase levels. Despite the continuance of mild hypercalcemia (11\u201312\u200amg\/dl), both patients showed no hypercalcemic symptoms. Importantly, patient 1 had improved neurodevelopment and patient 2 never experienced any developmental delays after starting cinacalcet. Neither experienced fractures after starting cinacalcet. Both have been successfully managed long-term without any significant adverse events. These cases expand the current literature of cinacalcet use in NSHPT to five successful reported cases. We propose that cinacalcet may be considered as an option for treating the severe hypercalcemia and metabolic bone disease found in infants and children with inactivating\n CASR<\/jats:italic>\n disorders.\n <\/jats:p>\n \n Learning points<\/jats:title>\n \n \n \n \n NSHPT due to mutations in the\n CASR<\/jats:italic>\n gene occurs with hypercalcemia and metabolic bone disease, but not always with severe critical illness in infancy.\n <\/jats:p>\n <\/jats:list-item>\n \n NSHPT should be considered in the differential diagnosis for a newborn with a bell-shaped chest, osteopenia, and periosteal reactions.<\/jats:p>\n <\/jats:list-item>\n \n Neurodevelopmental consequences may occur in children with hypercalcemia and may improve during treatment.<\/jats:p>\n <\/jats:list-item>\n \n Calcimimetics can be used to successfully treat the pathophysiology of NSHPT directly to control serum calcium levels.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/edm-15-0040","type":"journal-article","created":{"date-parts":[[2015,7,8]],"date-time":"2015-07-08T08:09:19Z","timestamp":1436342959000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":21,"title":["Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients"],"prefix":"10.1530","volume":"2015","author":[{"given":"Marisa M","family":"Fisher","sequence":"first","affiliation":[{"name":"1 Division of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, 705 Riley Hospital Drive, Room 5960, Indianapolis, Indiana, 46220, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne M","family":"Cabrera","sequence":"additional","affiliation":[{"name":"2 Division of Pediatric Endocrinology, Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 9000 W. Wisconsin Avenue, PO Box 1997, Milwaukee, Wisconsin, 53201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik A","family":"Imel","sequence":"additional","affiliation":[{"name":"1 Division of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, 705 Riley Hospital Drive, Room 5960, Indianapolis, Indiana, 46220, USA"},{"name":"3 Division of Endocrinology, Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Indianapolis, Indiana, 46202, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref291","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.bone.2014.04.010","article-title":"Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet","volume":"64","year":"2014","journal-title":"Bone"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.c.31336","article-title":"Ciliary disorder of the skeleton","volume":"160C","year":"2012","journal-title":"American Journal of Medical Genetics. 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sensing receptor mutation clinical benefit from cinacalcet of and","author":"JeandronDD","year":"2011","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s00431-004-1491-0","article-title":"Neonatal severe hyperparathyroidism: genotype\/phenotype correlation and the use of pamidronate as rescue therapy","volume":"163","year":"2004","journal-title":"European Journal of Pediatrics"},{"key":"ref141","first-page":"340551","article-title":"cinacalcet hydrochloride safety communication FDA suspends pediatric clinical trials after report of death http www fda gov Drugs DrugSafety ucm htm","author":"Sensipar","year":"2013","journal-title":"Food Drug Administration drug"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"2683","DOI":"10.1172\/JCI118335","article-title":"Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism","volume":"96","year":"1995","journal-title":"Journal of Clinical Investigation"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.c.31336","article-title":"Ciliary disorder of the skeleton","volume":"160C","year":"2012","journal-title":"American Journal of Medical Genetics. Part C, Seminars in Medical Genetics"},{"key":"ref311","first-page":"340551","article-title":"cinacalcet hydrochloride safety communication FDA suspends pediatric clinical trials after report of death http www fda gov Drugs DrugSafety ucm htm","author":"Sensipar","year":"2013","journal-title":"Food Drug Administration drug"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1210\/jc.2013-2834","article-title":"Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review","volume":"99","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref241","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1542\/peds.2011-0128","article-title":"BalsAParvexPMagdelaineC Successful use of bisphosphonate and calcimimetic in neonatal severe primary hyperparathyroidism","author":"Wilhelm","year":"2012","journal-title":"Pediatrics"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1159\/000350540","article-title":"Neonatal hypercalcemia due to a homozygous mutation in the calcium-sensing receptor: failure of cinacalcet","volume":"104","year":"2013","journal-title":"Neonatology"}],"container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2015\/1\/EDM15-0040.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2015\/1\/EDM15-0040.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:05Z","timestamp":1784555165000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,1]]},"references-count":32,"URL":"https:\/\/doi.org\/10.1530\/edm-15-0040","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,1]]}}}