Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation

J Pediatr Endocrinol Metab. 2019 Jun 26;32(6):647-651. doi: 10.1515/jpem-2018-0399.

Abstract

Background Vitamin D resistant rickets (HVDRR), is a rare autosomal recessive disorder caused by vitamin D receptor (VDR) gene mutations. There is no standard treatment in HVDRR. Case report The patient was a 3-year-old girl presenting with short stature, genu varum deformity, waddling gait and alopecia. She had hypocalcemia, hypophosphatemia, hyperparathyroidism and normal 1.25-(OH)2D levels. The patient was initially treated with calcitriol and high-dose oral calcium (Ca) for 22 months. The patient was treated with continuous high dose intravenous (i.v.) Ca therapy for 4 months, following initial lack of response to oral Ca and calsitriol. At the end of the 4 months, rickets was dramatically improved and did not recur for 3 years after i.v. Ca therapy. DNA sequence analyses of the VDR gene showed a homozygous novel mutation. Conclusions We identified a novel VDR gene mutation, and we concluded that i.v. Ca therapy from the central catheter is a safe treatment in HVDRR.

Keywords: hereditary vitamin D resistant rickets; i.v. calcium treatment; vitamin D receptor mutation.

Publication types

  • Case Reports

MeSH terms

  • Administration, Intravenous
  • Calcium / administration & dosage*
  • Calcium-Regulating Hormones and Agents / administration & dosage*
  • Child, Preschool
  • Familial Hypophosphatemic Rickets / drug therapy*
  • Familial Hypophosphatemic Rickets / genetics
  • Familial Hypophosphatemic Rickets / pathology
  • Female
  • Humans
  • Mutation*
  • Prognosis
  • Receptors, Calcitriol / genetics*

Substances

  • Calcium-Regulating Hormones and Agents
  • Receptors, Calcitriol
  • VDR protein, human
  • Calcium