{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:09:30Z","timestamp":1774645770494,"version":"3.50.1"},"reference-count":17,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"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":[[2015]]},"abstract":"<b><i>Background:<\/i><\/b> Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder caused by mutations in the vitamin D receptor (VDR) gene, which result in end-organ resistance to 1,25-(OH)<sub>2<\/sub>D<sub>3<\/sub>. Patients with HVDRR are mostly treated using i.v. calcium therapy with a central catheter. However, central catheter-related complications have been reported. <b><i>Patient:<\/i><\/b> The patient was a 3-year-old boy presenting with waddling gait and alopecia. He had hypocalcemia [8 mg\/dl (2 mmol\/l)], hyperparathyroidism (1,232 ng\/l), and elevated 1,25-(OH)<sub>2<\/sub>D<sub>3<\/sub> levels (>250 pmol\/l). DNA sequence analyses of the VDR gene showed a homozygous C-T transition at codon 152, resulting in a non-sense mutation in exon 5. <b><i>Interventions and Outcomes:<\/i><\/b> The patient was initially treated with calcitriol (80 ng\/kg\/day) and high-dose oral calcium (150 mg\/kg\/day) for one year. At the end of the first year, intermittent (5 days per month) i.v. calcium therapy without a central catheter was initiated because of insufficient clinical and radiological improvement. After 2 years of intermittent i.v. calcium therapy, there was a clear improvement based on clinical progress and on X-ray and biochemical findings. No peripheral complications were reported either. <b><i>Conclusion:<\/i><\/b> HVDRR with a non-sense mutation in the ligand-binding domain and alopecia was successfully treated with intermittent i.v. calcium without a central catheter.<\/jats:p>","DOI":"10.1159\/000367711","type":"journal-article","created":{"date-parts":[[2015,1,5]],"date-time":"2015-01-05T15:49:22Z","timestamp":1420472962000},"page":"67-72","source":"Crossref","is-referenced-by-count":10,"title":["Successful Intermittent Intravenous Calcium Treatment via the Peripheral Route in a Patient with Hereditary Vitamin D-Resistant Rickets and Alopecia"],"prefix":"10.1159","volume":"83","author":[{"given":"Betul","family":"Ersoy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seniha","family":"Kiremitci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuyoshi","family":"Isojima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sachiko","family":"Kitanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,1,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.20.2.0359"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.09.004"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-4362.2003.01816.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2011.05.045"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2010.02.004"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1248\/cpb.51.357"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1993.tb01779.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1159\/000180568"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2009.06.003"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112483"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.09.078"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1080\/08035250600652013"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116539"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1159\/000341405"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.431"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114944"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2012.04436.x"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/367711","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/367711","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:41:58Z","timestamp":1745430118000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000367711"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2015,2,1]]},"published-print":{"date-parts":[[2015,2,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000367711","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}