{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T14:48:47Z","timestamp":1789051727808,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T00:00:00Z","timestamp":1152835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Internal Medicine"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>Abstract.<\/jats:title><jats:p>Familial benign hypocalciuric hypercalcaemia (FHH) results from a heterozygous inactivating mutation of the calcium\u2010sensing receptor (CaR) and is characterized by hypercalcaemia, hypocalciuria and inappropriately normal plasma levels of parathyroid hormone. In a minority of patients, a loss of function mutation of the CaR results in severe hypercalcaemia associated with complications for which no effective surgical or medical treatment is available. We investigated the effects of the calcimimetic agent cinacalcet, an allosteric modulator of the CaR, in a 26\u2010year\u2010old man presenting with hypercalcaemia due to a<jats:italic>de novo<\/jats:italic>inactivating mutation of the CaR. Complicating features were recurrent psychosis and progressive severe osteoporosis. A single dose of either 30 or 60\u2003mg of cinacalcet resulted in a 63\u201388% decline in plasma parathyroid hormone levels within 2\u2003h of administration of the agent, reverting to baseline levels after 12\u2003h. Normalization of serum calcium was more gradual but sustained for up to 12\u2003months of treatment with a maintenance twice\u2010daily oral dose of 60\u2003+\u200330\u2003mg cinacalcet. In addition to its beneficial effects in primary and secondary hyperparathyroidism, cinacalcet may open new therapeutic avenues in the management of a subset of patients with severe hypercalcaemia due to inactivating mutations of the CaR.<\/jats:p>","DOI":"10.1111\/j.1365-2796.2006.01684.x","type":"journal-article","created":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T12:57:49Z","timestamp":1152881869000},"page":"177-182","source":"Crossref","is-referenced-by-count":85,"title":["Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to a<i>de novo<\/i>inactivating mutation of the calcium\u2010sensing receptor"],"prefix":"10.1111","volume":"260","author":[{"given":"H. J. L. M.","family":"TIMMERS","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"KARPERIEN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. A. T.","family":"HAMDY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"DE BOER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. R. M. M.","family":"HERMUS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,14]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.2001.81.1.239"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceca.2003.10.010"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1124\/jpet.103.057273"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa031633"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021597"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0842"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.3.1309"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-102-4-511"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-52-4-736"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1990.tb03881.x"},{"key":"e_1_2_6_12_2","first-page":"337","article-title":"Hypocalciuric hypercalcemia due to de novo mutation of the calcium sensing receptor","volume":"64","author":"Sarli M","year":"2004","journal-title":"Medicina (B Aires)"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj1954.38.689"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90617-Y"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20067"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-92-3-351"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200201000-00001"},{"key":"e_1_2_6_18_2","first-page":"397","article-title":"Bone mineral density in patients with familial hypocalciuric hypercalcaemia (FHH)","volume":"158","author":"Abugassa S","year":"1992","journal-title":"Eur J Surg"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.145.5.477"},{"key":"e_1_2_6_20_2","doi-asserted-by":"crossref","first-page":"4156","DOI":"10.1210\/endo.141.11.7753","article-title":"Effects of a calcimimetic compound and naturally activating mutations on the human Ca2+ receptor and on Ca2+ receptor\/metabotropic glutamate chimeric receptors","volume":"141","author":"Hauache OM","year":"2000","journal-title":"Endocrinology"},{"key":"e_1_2_6_21_2","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1016\/S0026-895X(24)23025-X","article-title":"Domains determining ligand specificity for Ca2+ receptors","volume":"55","author":"Hammerland LG","year":"1999","journal-title":"Mol Pharmacol"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M200976200"}],"container-title":["Journal of Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2796.2006.01684.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2796.2006.01684.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T22:31:09Z","timestamp":1736461869000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2796.2006.01684.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7,14]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,8]]}},"alternative-id":["10.1111\/j.1365-2796.2006.01684.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2796.2006.01684.x","archive":["Portico"],"relation":{},"ISSN":["0954-6820","1365-2796"],"issn-type":[{"value":"0954-6820","type":"print"},{"value":"1365-2796","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7,14]]}}}