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, Saygın; Tamura, Mayuko; Turan, Serap; Atay, Zeynep; Isguven, Pinar; GÜRAN, TÜLAY; Haliloglu, Belma; Bas, Serpil; Isojima, Tsuyoshi; Kitanaka, Sachiko; Bereket, Abdullah

doi:10.1515/jpem-2019-0466

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., Turan S., Atay Z., Isguven P., GÜRAN T., ...More

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

Publication Type: Article / Article
Volume: 33 Issue: 4
Publication Date: 2020
Doi Number: 10.1515/jpem-2019-0466
Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Page Numbers: pp.557-562

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.