{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:36:33Z","timestamp":1756384593810,"version":"3.40.5"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,25]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Hereditary vitamin D resistant rickets (HVDRR) is a bone disorder characterized by a phenotype of rickets with onset at early stage of life with elevated alkaline phosphatase, hypocalcemia, hypophosphatemia, hyperparathyroidism and elevated levels of 1,25-dihydroxyvitamin D (calcitriol) as a consequence of the resistance of the vitamin D receptor (VDR). Mutations in the DNA-binding domain of the VDR of the vitamin D receptor have been characterized by a lack of response to traditional treatment with calcium and calcitriol. Secondary hyperparathyroidism and hypophosphatemia are the main factors in its pathogenesis. Cinacalcet is a calciomimetic drug that reproduces the action of calcium by increasing the sensitivity of the calcium-sensitive receptors (CASR) of the parathyroid glands that regulate the secretion of the parathyroid hormone (PTH).<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n We describe its effectiveness and safety in a patient with HVDRR and review other published report cases in the literature. According to published experience, cinacalcet could be used as an adjunctive treatment for the HVDRR with mutations in the DNA-binding domain of the VDR refractory to traditional treatment. Due to lack of knowledge of possible effects of cinacalcet on CASR in the skeleton, long-term use should be avoided.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n The optimal dose of cinacalcet for treatment of HVDRR ranges between 0.25 and 0.5 mg\/kg\/day. Serious side effects of cinacalcet have not been published in this type of patient, although we considered that a close monitoring is necessary in order to detect hypocalcemia.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2019-0258","type":"journal-article","created":{"date-parts":[[2020,1,11]],"date-time":"2020-01-11T09:02:00Z","timestamp":1578733320000},"page":"313-318","source":"Crossref","is-referenced-by-count":8,"title":["Cinacalcet treatment experience in hereditary vitamin D resistant rickets"],"prefix":"10.1515","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7842-6624","authenticated-orcid":false,"given":"Jes\u00fas","family":"Lucas","sequence":"first","affiliation":[{"name":"Pediatric Nephrology , General University Hospital of Castell\u00f3n , Castell\u00f3n , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Luis","family":"Badia","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology , General University Hospital of Castell\u00f3n , Castell\u00f3n , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Lucas","sequence":"additional","affiliation":[{"name":"Hospital of Manises , Manises , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Remon","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology , General University Hospital of Castell\u00f3n , Castell\u00f3n , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,1,11]]},"reference":[{"key":"2023040101034630820_j_jpem-2019-0258_ref_001_w2aab3b7b6b1b6b1ab1b5b1Aa","doi-asserted-by":"crossref","unstructured":"Brooks MH, Stern PH, Bell NH. Vitamin D-dependent rickets type II. N Engl J Med 1980;302:810.","DOI":"10.1056\/NEJM198004033021416"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_002_w2aab3b7b6b1b6b1ab1b5b2Aa","doi-asserted-by":"crossref","unstructured":"Portale A, Perwad F, Miller W. Rickets due to hereditary abnormalities of vitamin D synthesis or action. In: Glorieux F, Pettifor JM, Juppner H, editors. Pediatric bone, 2nd ed. Oxford: Elsevier, 2012:679\u201398.","DOI":"10.1016\/B978-0-12-382040-2.10025-5"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_003_w2aab3b7b6b1b6b1ab1b5b3Aa","doi-asserted-by":"crossref","unstructured":"Sahay M, Sahay R. Rickets-vitamin D deficiency and dependency. Indian J Endocrinol Metab 2012;16:164\u201376.","DOI":"10.4103\/2230-8210.93732"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_004_w2aab3b7b6b1b6b1ab1b5b4Aa","doi-asserted-by":"crossref","unstructured":"Marx S, Spiegel A, Brown E, Gardner D, Downs R, et al. A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. J Clin Endocrinol Metab 1978;47:1303\u201310.","DOI":"10.1210\/jcem-47-6-1303"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_005_w2aab3b7b6b1b6b1ab1b5b5Aa","doi-asserted-by":"crossref","unstructured":"Srivastava T, Alon US. Cinacalcet as adjunctive therapy for hereditary 1,25-dihydroxyvitamin D-resistant rickets. J Bone Miner Res 2013;28:992\u20136.","DOI":"10.1002\/jbmr.1838"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_006_w2aab3b7b6b1b6b1ab1b5b6Aa","doi-asserted-by":"crossref","unstructured":"Nemeth EF, Shoback D. Calcimimetic and calcilytic drugs for treating bone and mineral-related disorders. Best Pract Res Clin Endocrinol Metab 2013;27:373\u201384.","DOI":"10.1016\/j.beem.2013.02.008"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_007_w2aab3b7b6b1b6b1ab1b5b7Aa","doi-asserted-by":"crossref","unstructured":"Tiosano D, Hochberg Z. Hypophosphatemia: the common denominator of all rickets. J Bone Miner Metab 2009;27: 392\u2013401.","DOI":"10.1007\/s00774-009-0079-1"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_008_w2aab3b7b6b1b6b1ab1b5b8Aa","doi-asserted-by":"crossref","unstructured":"Balsan S, Garab\u00e9dian M, Larchet M, Gorski AM, Cournot G, et al. Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D. J Clin Invest 1986;77:1661\u20137.","DOI":"10.1172\/JCI112483"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_009_w2aab3b7b6b1b6b1ab1b5b9Aa","doi-asserted-by":"crossref","unstructured":"Ak\u0131nci A, D\u00fcndar I, K\u0131v\u0131lc\u0131m M. The effectiveness of cinacalcet as an adjunctive therapy for hereditary 1,25 dihydroxyvitamin D3-resistant rickets. J Clin Res Pediatr Endocrinol 2017;9:172\u20138.","DOI":"10.4274\/jcrpe.3486"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_010_w2aab3b7b6b1b6b1ab1b5c10Aa","doi-asserted-by":"crossref","unstructured":"Nicolescu R, Lombet J, Cavalier E. Vitamin D-resistant rickets and cinacalcet \u2013 one more favorable experience. Front Pediatr 2018;6:376.","DOI":"10.3389\/fped.2018.00376"},{"key":"2023040101034630820_j_jpem-2019-0258_ref_011_w2aab3b7b6b1b6b1ab1b5c11Aa","doi-asserted-by":"crossref","unstructured":"Surender K, Kochar IP, Ahmad A, Kapoor M. Hereditary vitamin D rickets: a case series in a family. 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