[Vitamin D-resistant rickets type II: apropos of 2 cases]

Pediatrie. 1992;47(12):817-20.
[Article in French]

Abstract

We present two cases of vitamin D-dependent rickets type II, a rare disease caused by a hereditary disorder of the receptor for 1,25 dihydroxyvitamin D (1,25 (OH) 2 D). The first patient was seen for the first time at the age of 2 years with florid rickets, almost complete alopecia, and an elevated plasma level of 1,25 (OH) 2 D; there was no improvement following treatment with 1 alpha-hydroxy-vitamin D3). The second patient, a boy whose parents are first cousins, was seen at the age of 7 years with severe rickets, partial alopecia and an elevated serum level of 1,25 (OH) 2 D; the rickets disappeared after administering high doses of 1 alpha hydroxyvitamin D3 and vitamin D.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Alopecia / complications
  • Calcitriol / blood
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Hydroxycholecalciferols / therapeutic use
  • Hypophosphatemia, Familial / blood
  • Hypophosphatemia, Familial / complications
  • Hypophosphatemia, Familial / diagnosis*
  • Hypophosphatemia, Familial / drug therapy
  • Male

Substances

  • Hydroxycholecalciferols
  • Calcitriol
  • alfacalcidol