{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T12:33:12Z","timestamp":1777897992898,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,11,28]],"date-time":"2008-11-28T00:00:00Z","timestamp":1227830400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,11,28]],"date-time":"2008-11-28T00:00:00Z","timestamp":1227830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res"],"abstract":"<jats:p>A 6-year-old boy, of consanguinous parents, presented with severe rickets and alopecia; he was found to have hypocalcaemia and elevated circulating 1,25-dihydroxyvita-min D [1,25-(OH)&lt;sub&gt;2&lt;\/sub&gt;D] levels. He showed no calcaemic response to 1,25-(OH)&lt;sub&gt;2&lt;\/sub&gt;D&lt;sub&gt;3&lt;\/sub&gt; or ergocalciferol given for 3 or more months in daily doses as high as 48 \u00b5g and 6 \u00d7 106 IU, respectively. Analyses with cultured skin fibroblasts revealed a normal capacity and affinity for 1,25-(OH)&lt;sub&gt;2&lt;\/sub&gt;D&lt;sub&gt;3&lt;\/sub&gt; in soluble extracts (\u2018cytosol\u2019) and in nuclei of intact cells but no detectable response of 25-(OH)D3 24-hydroxylase to 1,25-(OH)&lt;sub&gt;2&lt;\/sub&gt;D&lt;sub&gt;3&lt;\/sub&gt; in high concentration. Treatment with high doses of calcium (3\u20134 g elemental calcium orally per day) produced a striking clinical and radiological improvement. We conclude that high oral doses of calcium can replace many of the actions of calciferols. Therapy with high doses of calcium should be tried in similarly affected cases that appear totally or partially unresponsive to calciferols.<\/jats:p>","DOI":"10.1159\/000180568","type":"journal-article","created":{"date-parts":[[2008,11,29]],"date-time":"2008-11-29T09:20:02Z","timestamp":1227950402000},"page":"280-287","source":"Crossref","is-referenced-by-count":44,"title":["Hereditary Resistance to 1,25-Dihydroxyvitamin D: Clinical and Radiological Improvement during High-Dose Oral Calcium Therapy"],"prefix":"10.1159","author":[{"given":"Nadia","family":"Sakati","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas J.Y.","family":"Woodhouse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Niles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harb","family":"Harfi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald A.","family":"de Grange","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Marx","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,11,28]]},"container-title":["Hormone Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000180568","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T09:17:30Z","timestamp":1777627050000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000180568"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,28]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000180568","archive":["Portico"],"relation":{},"ISSN":["0301-0163","1423-0046"],"issn-type":[{"value":"0301-0163","type":"print"},{"value":"1423-0046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,28]]}}}