{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:09:37Z","timestamp":1774645777651,"version":"3.50.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2016,6,11]],"date-time":"2016-06-11T00:00:00Z","timestamp":1465603200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,6,11]],"date-time":"2016-06-11T00:00:00Z","timestamp":1465603200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Vitamin-D-dependent rickets 1A (VDDR-1A) is caused by mutations of the renal &lt;i&gt;CYP27B1&lt;\/i&gt; gene and is a rare form of rickets. Herein, we report a 20-month-old toddler who presented with inability to walk and failure to thrive. The clinical, biochemical and radiological findings were consistent with a diagnosis of rickets, specifically of the genetic type due to increased 25-OH vitamin D stores. &lt;b&gt;&lt;i&gt;Methods and Results:&lt;\/i&gt;&lt;\/b&gt; Our patient was a compound heterozygote with 2 novel mutations: c.242G&gt;A(p.Gly81Glu) and c.1144C&gt;G (p.Pro382Ala) in the &lt;i&gt;CYP27B1&lt;\/i&gt; gene. Analysis of both mutations with in silico models predicted a deleterious effect on 25-OH vitamin D 1\u03b1-hydroxylase function. Interestingly, the levels of 1,25-(OH)&lt;sub&gt;2&lt;\/sub&gt; vitamin D were within normal limits. Our patient was initiated on 1\u03b1-hydroxyvitamin D (alfacalcidol) and supplemental calcium. Monitoring of bone metabolism showed a normalization of all bone metabolism serum indices after 3 months of therapy and, thereafter, only alfacalcidol was given at a maintenance dose. The clinical follow-up showed a dramatic improvement in musculoskeletal activity, and the patient regained acceleration in height and weight appropriate for his age. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; This rare case report of VDDR-1A with normal levels of 1,25-(OH)&lt;sub&gt;2&lt;\/sub&gt; vitamin D enhances our awareness for this type of rickets in clinical practice.<\/jats:p>","DOI":"10.1159\/000446774","type":"journal-article","created":{"date-parts":[[2016,6,10]],"date-time":"2016-06-10T23:29:05Z","timestamp":1465601345000},"page":"58-63","source":"Crossref","is-referenced-by-count":17,"title":["A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the &lt;b&gt;&lt;i&gt;CYP27B1&lt;\/i&gt;&lt;\/b&gt; Gene"],"prefix":"10.1159","volume":"87","author":[{"given":"Aris","family":"Giannakopoulos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Efthymiadou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dionisios","family":"Chrysis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,6,11]]},"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/446774","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/446774","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/446774","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:11:03Z","timestamp":1745431863000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000446774"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,11]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,2,21]]},"published-print":{"date-parts":[[2017,2,24]]}},"URL":"https:\/\/doi.org\/10.1159\/000446774","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,11]]}}}