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., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, ss.557-562, 2020 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 33 Konu: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2019-0466
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayısı: ss.557-562

Özet

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.