Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D

J Clin Invest. 1986 May;77(5):1661-7. doi: 10.1172/JCI112483.

Abstract

We report the beneficial effects of calcium infusions in a child with hereditary resistance to 1,25(OH)2D and alopecia. This patient after transient responsiveness to vitamin D derivatives became unresponsive to all therapy despite serum 1,25(OH)2D concentrations maintained at levels approximately 100-fold normal. A 7-mo trial with calcium infusions led to correction of biochemical abnormalities and healing of rickets. Bone biopsies (n = 3) showed a normal mineralization and the disappearance of the osteomalacia. Cultures of bone-derived cells demonstrated a lack of activation of 25-hydroxyvitamin D 24-hydroxylase and osteocalcin synthesis by 1,25(OH)2D3 (10(-9) and 10(-6) M). These results demonstrate that even in the absence of a normal 1,25(OH)2D3 receptor-effector system in bone cells, normal mineralization can be achieved in humans if adequate serum calcium and phosphorus concentrations are maintained; and calcium infusions may be an efficient alternative for the management of patients with this condition who are unresponsive to large doses of vitamin D derivatives.

MeSH terms

  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Calcifediol / blood
  • Calcifediol / therapeutic use
  • Calcitriol / blood
  • Calcitriol / therapeutic use*
  • Calcium / blood
  • Calcium / therapeutic use*
  • Calcium-Binding Proteins / biosynthesis
  • Cells, Cultured
  • Child
  • Cytochrome P-450 Enzyme System*
  • Female
  • Humans
  • Hypophosphatemia, Familial / blood
  • Hypophosphatemia, Familial / drug therapy*
  • Lactose / therapeutic use
  • Osteocalcin
  • Osteogenesis / drug effects*
  • Phosphorus / blood
  • Radiography
  • Steroid Hydroxylases / analysis
  • Vitamin D3 24-Hydroxylase

Substances

  • Calcium-Binding Proteins
  • Osteocalcin
  • Phosphorus
  • Cytochrome P-450 Enzyme System
  • Steroid Hydroxylases
  • Vitamin D3 24-Hydroxylase
  • Calcitriol
  • Lactose
  • Calcifediol
  • Calcium