{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:29:50Z","timestamp":1773235790219,"version":"3.50.1"},"reference-count":12,"publisher":"Oxford University Press (OUP)","issue":"suppl_1","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:p>In hypophosphatemic rickets, there are both inherited and acquired forms, where X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form and caused by mutations in the phosphate-regulating endopeptidase (<jats:italic>PHEX<\/jats:italic>) gene. XLH is associated with growth retardation and bone deformities. The renal tubular cells have an important role in calcium and phosphate metabolism, where the 1\u03b1-hydroxylase enzyme metabolizes the conversion of 25 (OH)-vitamin D to potent 1,25 (OH)<jats:sub>2<\/jats:sub>-vitamin D, whereas the sodium\u2013phosphate transporter controls tubular phosphate reabsorption. The pathophysiological defect in XLH is speculated to cause an increase in a circulating phosphate regulating hormone termed phosphatonin (fibroblast growth factor 23 is the primary phosphatonin candidate), which leads to inhibition of 1\u03b1-hydroxylase, and simultaneously to inhibition of the sodium\u2013phosphate transporter domain NPT2c leading to parathyroid hormone-independent phosphaturia. Hence, current treatment of XLH is 1,25 (OH)<jats:sub>2<\/jats:sub>-vitamin D or the vitamin D analog alfacalcidol and elementary phosphorus. Unfortunately, patients with XLH may develop nephrocalcinosis, secondary or tertiary hyperparathyroidism, and in some situations also hypertension and cardiovascular abnormalities. We describe a patient with XLH caused by a novel missense mutation in the <jats:italic>PHEX<\/jats:italic> gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant hyperparathyroidism, hypercalcemia, renal failure, and hypertension. We also report the use of the calcimimetic drug cinacalcet in the successful treatment of hypercalcemia and hyperparathyroidism.<\/jats:p>","DOI":"10.1530\/eje-08-0383","type":"journal-article","created":{"date-parts":[[2008,9,6]],"date-time":"2008-09-06T00:54:42Z","timestamp":1220662482000},"page":"S101-S105","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":43,"title":["A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet"],"prefix":"10.1093","volume":"159","author":[{"given":"Helge","family":"R\u00e6der","sequence":"first","affiliation":[{"name":"1Section for PediatricsDepartment of Clinical Medicine, University of Bergen, 5021 Bergen, Norway2Department of PediatricsHaukeland University Hospital, 5021 Bergen, Norway3Department of EndocrinologyBirmingham Children's Hospital, Birmingham, UK4Department of EndocrinologyAcademic Hospital Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"},{"name":"1Section for PediatricsDepartment of Clinical Medicine, University of Bergen, 5021 Bergen, Norway2Department of PediatricsHaukeland University Hospital, 5021 Bergen, Norway3Department of EndocrinologyBirmingham Children's Hospital, Birmingham, UK4Department of EndocrinologyAcademic Hospital Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nick","family":"Shaw","sequence":"additional","affiliation":[{"name":"1Section for PediatricsDepartment of Clinical Medicine, University of Bergen, 5021 Bergen, Norway2Department of PediatricsHaukeland University Hospital, 5021 Bergen, Norway3Department of EndocrinologyBirmingham Children's Hospital, Birmingham, UK4Department of EndocrinologyAcademic Hospital Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coen","family":"Netelenbos","sequence":"additional","affiliation":[{"name":"1Section for PediatricsDepartment of Clinical Medicine, University of Bergen, 5021 Bergen, Norway2Department of PediatricsHaukeland University Hospital, 5021 Bergen, Norway3Department of EndocrinologyBirmingham Children's Hospital, Birmingham, UK4Department of EndocrinologyAcademic Hospital Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Bjerknes","sequence":"additional","affiliation":[{"name":"1Section for PediatricsDepartment of Clinical Medicine, University of Bergen, 5021 Bergen, Norway2Department of PediatricsHaukeland University Hospital, 5021 Bergen, Norway3Department of EndocrinologyBirmingham Children's Hospital, Birmingham, UK4Department of EndocrinologyAcademic Hospital Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"},{"name":"1Section for PediatricsDepartment of Clinical Medicine, University of Bergen, 5021 Bergen, Norway2Department of PediatricsHaukeland University Hospital, 5021 Bergen, Norway3Department of EndocrinologyBirmingham Children's Hospital, Birmingham, UK4Department of EndocrinologyAcademic Hospital Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","reference":[{"issue":"5","key":"1_17795343","doi-asserted-by":"publisher","first-page":"642","DOI":"10.1172\/JCI200319687","volume":"112","author":"Quarles","year":"2003","journal-title":"Journal of Clinical Investigation","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"17","key":"2_17599118","doi-asserted-by":"publisher","first-page":"1656","DOI":"10.1056\/NEJMoa020881","volume":"348","author":"Jonsson","year":"2003","journal-title":"New England Journal of Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"issue":"26","key":"3_9650062","doi-asserted-by":"crossref","first-page":"1843","DOI":"10.1056\/NEJM199112263252604","volume":"325","author":"Verge","year":"1991","journal-title":"New England Journal of Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"issue":"5","key":"4_18356843","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1007\/s00467-004-1443-y","volume":"19","author":"Schmitt","year":"2004","journal-title":"Pediatric nephrology (Berlin, Germany)","ISSN":"https:\/\/id.crossref.org\/issn\/0931-041X","issn-type":"print"},{"issue":"2","key":"5_17497957","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s00467-002-1044-6","volume":"18","author":"Alon","year":"2003","journal-title":"Pediatric nephrology (Berlin, Germany)","ISSN":"https:\/\/id.crossref.org\/issn\/0931-041X","issn-type":"print"},{"issue":"8","key":"6_16873723","doi-asserted-by":"publisher","first-page":"2450","DOI":"10.1210\/jc.82.8.2450","volume":"82","author":"Nehgme","year":"1997","journal-title":"Journal of Clinical Endocrinology &amp; 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