Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route

ABALI S., Tamura M., DEMİRCİOĞLU S., Atay Z., Isguven P., GÜRAN T., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.4, pp.557-562, 2020 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2019-0466
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.557-562
  • Keywords: calcium, hereditary vitamin D-resistant rickets, VDR gene, vitamin D receptor, D-DEPENDENT RICKETS, BINDING DOMAIN, MUTATION, HORMONE, SERVER
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes

Abstract

Background: Hereditary vitamin D-resistant rickets (HVDRR) is caused by vitamin D receptor (VDR) defects. Patients with HVDRR do not respond to standard doses of calcitriol and oral calcium (Ca) treatment and need to be treated with intravenous Ca (IV-Ca) via a central route. However, central catheter-related complications can cause significant morbidity.