{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T01:15:26Z","timestamp":1769044526327,"version":"3.49.0"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"8","license":[{"start":{"date-parts":[[2018,6,27]],"date-time":"2018-06-27T00:00:00Z","timestamp":1530057600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,8,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2017-0312_s_999_w2aab3b7b9b1b6b1aab1c17b1Aa\">\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes with the retinoid X receptor to regulate the expression of target genes. Inactivating mutations in the <jats:italic>VDR<\/jats:italic> gene cause hereditary vitamin D-resistant rickets (HVDRR), a rare disorder characterized by an early onset of rickets, growth retardation, skeletal deformities, hypocalcemia, hypophosphatemia and secondary hyperparathyroidism, and in some cases alopecia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0312_s_998_w2aab3b7b9b1b6b1aab1c17b2Aa\">\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>We describe eight new HVDRR patients from four unrelated consanguineous families. The <jats:italic>VDR<\/jats:italic> gene was sequenced to identify mutations. The management of patients over a period of up to 11 years following the initial diagnosis is assessed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0312_s_997_w2aab3b7b9b1b6b1aab1c17b3Aa\">\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Although all patients exhibit main features of HVDRR and carry the same c.885C&gt;A (p.Y295*) loss of function mutation in the <jats:italic>VDR<\/jats:italic> gene, there was heterogeneity of the manifestations of HVDRR-associated phenotypes and developmental milestones. These eight patients were successfully treated over a period of 11 years. All clinical symptoms were improved except alopecia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0312_s_996_w2aab3b7b9b1b6b1aab1c17b4Aa\">\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>The study concludes that <jats:italic>VDR<\/jats:italic> sequencing and laboratory tests are essential to confirm HVDRR and to assess the effectiveness of the treatment.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2017-0312","type":"journal-article","created":{"date-parts":[[2018,7,13]],"date-time":"2018-07-13T05:27:22Z","timestamp":1531459642000},"page":"861-868","source":"Crossref","is-referenced-by-count":10,"title":["Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function <i>VDR<\/i> mutation"],"prefix":"10.1515","volume":"31","author":[{"given":"Muhammad","family":"Faiyaz-Ul-Haque","sequence":"first","affiliation":[{"name":"Department of Pathology, Molecular Genetics Pathology Unit , College of Medicine , King Khalid University Hospital, King Saud University , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waheeb","family":"AlDhalaan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , King Faisal Specialist Hospital and Research Center , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"AlAshwal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2013 MBC 58 , King Faisal Specialist Hospital and Research Center , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bassam S.","family":"Bin-Abbas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , King Faisal Specialist Hospital and Research Center , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afaf","family":"AlSagheir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , King Faisal Specialist Hospital and Research Center , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maram","family":"Alotaiby","sequence":"additional","affiliation":[{"name":"Department of Pathology , College of Medicine , King Saud University , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zulqurnain","family":"Rafiq","sequence":"additional","affiliation":[{"name":"Department of Orthopedic , King Saud University , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed H.E.","family":"Zaidi","sequence":"additional","affiliation":[{"name":"Genome Technologies, Ontario Institute for Cancer Research , Toronto , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2018,6,27]]},"reference":[{"key":"2023040101280977117_j_jpem-2017-0312_ref_001_w2aab3b7b9b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Feldman D, Malloy PJ. 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