{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T12:09:59Z","timestamp":1779192599459,"version":"3.51.4"},"reference-count":19,"publisher":"Walter de Gruyter GmbH","license":[{"start":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:00:00Z","timestamp":1779235200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0704_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Neonatal severe primary hyperparathyroidism (NSHPT) is a rare, potentially life-threatening disorder caused by loss-of-function mutations in the\n                      <jats:italic>CASR<\/jats:italic>\n                      gene. Treatment traditionally includes hydration, diuretics, bisphosphonates, and parathyroidectomy. Long-term data on pharmacological therapy with cinacalcet are limited.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0704_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a female infant with NSHPT due to compound heterozygous\n                      <jats:italic>CASR<\/jats:italic>\n                      variants (c.893C&gt;T, p.Ala298Val; c.2414A&gt;C, p.Lys805Thr). Initial therapy with bisphosphonates provided transient calcium reduction. Cinacalcet monotherapy was started in the third week of life, with empirically guided dose titration. Follow-up over nine years showed stable mild hypercalcemia (approximately 3\u202fmmol\/L), normal or slightly elevated PTH, normal growth and cognitive development, absence of nephrocalcinosis, and preserved bone mineral density. This case suggests that long-term cinacalcet therapy may provide sustained biochemical control in selected patients with NSHPT carrying\n                      <jats:italic>CASR<\/jats:italic>\n                      variants with residual receptor function.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0704_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Long-term cinacalcet monotherapy may provide sustained biochemical control and normal development in selected patients with NSHPT carrying CASR variants with residual receptor function.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0704","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T11:51:41Z","timestamp":1779191501000},"source":"Crossref","is-referenced-by-count":0,"title":["Nine-year cinacalcet monotherapy in a child with neonatal severe hyperparathyroidism caused by compound heterozygous\n                    <i>CASR<\/i>\n                    mutations"],"prefix":"10.1515","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1754-0137","authenticated-orcid":false,"given":"Dorota","family":"Roztoczy\u0144ska","sequence":"first","affiliation":[{"name":"Department of Pediatric and Adolescent Endocrinology , Chair of Pediatrics , Institute of Pediatrics , Collegium Medicum , Jagiellonian University , Krakow , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewelina","family":"Preizner-Rzucid\u0142o","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , University Children\u2019s Hospital , Krakow , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerzy","family":"Starzyk","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Endocrinology , Chair of Pediatrics , Institute of Pediatrics , Collegium Medicum , Jagiellonian University , Krakow , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2026,5,20]]},"reference":[{"key":"2026051911513765710_j_jpem-2025-0704_ref_001","doi-asserted-by":"crossref","unstructured":"Egbuna, OI, Brown, EM. Hypercalcaemic and hypocalcaemic conditions due to calcium sensing receptor mutations. Best Pract Res Clin Rheumatol 2008;22:129\u201348. https:\/\/doi.org\/10.1016\/j.berh.2007.11.006.","DOI":"10.1016\/j.berh.2007.11.006"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_002","doi-asserted-by":"crossref","unstructured":"Brown, EM, Gamba, G, Riccardi, D, Lombardi, M, Butters, R, Kifor, O, et al.. Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature 1993;366:575\u201380. https:\/\/doi.org\/10.1038\/366575a0.","DOI":"10.1038\/366575a0"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_003","doi-asserted-by":"crossref","unstructured":"Hofer, AM, Brown, EM. Extracellular calcium sensing and signalling. Nat Rev Mol Cell Biol 2003;4:530\u20138. https:\/\/doi.org\/10.1038\/nrm1154.","DOI":"10.1038\/nrm1154"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_004","doi-asserted-by":"crossref","unstructured":"T\u0151ke, J, Czirj\u00e1k, G, Enyedi, P, T\u00f3th, M. Rare diseases caused by abnormal calcium sensing and signalling. Endocrine 2021;71:611\u20137. https:\/\/doi.org\/10.1007\/s12020-021-02620-5.","DOI":"10.1007\/s12020-021-02620-5"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_005","doi-asserted-by":"crossref","unstructured":"Murphy, H, Patrick, J, B\u00e1ez Irizarry, E, Lacassie, Y, G\u00f3mez, R, Vargas, A, et al.. Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: a rare cause of life-threatening hypercalcemia. Eur J Med Genet 2016;59:227\u201331. https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.001.","DOI":"10.1016\/j.ejmg.2016.02.001"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_006","doi-asserted-by":"crossref","unstructured":"Gannon, AW, Monk, HM, Levine, MA. Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. J\u00a0Clin Endocrinol Metab 2014;99:7\u201311. https:\/\/doi.org\/10.1210\/jc.2013-2834.","DOI":"10.1210\/jc.2013-2834"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_008","doi-asserted-by":"crossref","unstructured":"Fisher, MM, Cabrera, SM, Imel, EA. Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. Endocrinol Diabetes Metab Case Rep 2015;2015:150040. https:\/\/doi.org\/10.1530\/EDM-15-0040.","DOI":"10.1530\/EDM-15-0040"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_007","doi-asserted-by":"crossref","unstructured":"Garc\u00eda Soblechero, E, Ferrer Castillo, MT, Jim\u00e9nez Crespo, B, Dom\u00ednguez Quintero, ML, Gonz\u00e1lez Fuentes, C. Neonatal hypercalcemia due to a homozygous mutation in the calcium sensing receptor: failure of cinacalcet. Neonatology 2013;104:104\u20138. https:\/\/doi.org\/10.1159\/000350540.","DOI":"10.1159\/000350540"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_009","doi-asserted-by":"crossref","unstructured":"Reh, CMS, Hendy, GN, Cole, DEC, Jeandron, DD. Neonatal hyperparathyroidism with a heterozygous calcium sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet. 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J\u00a0Pediatr Endocrinol Metab 2019;32:305\u201310. https:\/\/doi.org\/10.1515\/jpem-2018-0307.","DOI":"10.1515\/jpem-2018-0307"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_016","doi-asserted-by":"crossref","unstructured":"Thakkar, K, Romero, CJ, Rapaport, R. Successful early treatment of severe neonatal hyperparathyroidism with cinacalcet. J\u00a0Endocr Soc 2021;5:A225. https:\/\/doi.org\/10.1210\/jendso\/bvab048.457.","DOI":"10.1210\/jendso\/bvab048.457"},{"key":"2026051911513765710_j_jpem-2025-0704_ref_015","doi-asserted-by":"crossref","unstructured":"Leunbach, TL, Hansen, AT, Madsen, M, Cipliene, R, Christensen, P, Schou, A. A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug. 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