Article
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.
Journal of pediatric endocrinology & metabolism : JPEM - 28 Apr 2020
Abalı Saygın, Tamura Mayuko, Turan Serap, Atay Zeynep, Isguven Pınar, Güran Tülay, Haliloglu Belma, Baş Serpil, Isojima Tsuyoshi, Kitanaka Sachiko, Bereket Abdullah
Abstract excerpt
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. Case presentation Four unrelated patients with HVDRR...
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