Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation

Horm Res. 2001;55(6):305-8. doi: 10.1159/000050018.

Abstract

A girl with autosomal dominant hypophosphatemic rickets, presented with clinical, radiological and laboratory signs of rickets at the age of 11 months. She showed a good response to the treatment with low doses of oral phosphate and calcitriol. Surprisingly, she lost her renal phosphate wasting at the age of 8 years, indicating that the disturbed phosphate metabolism can be compensated by hormonal or other factors.

Publication types

  • Case Reports

MeSH terms

  • Administration, Oral
  • Aging / metabolism
  • Calcitriol / administration & dosage
  • Calcitriol / therapeutic use
  • Calcium Channel Agonists / administration & dosage
  • Calcium Channel Agonists / therapeutic use
  • Child
  • Female
  • Fibroblast Growth Factor-23
  • Fibroblast Growth Factors / genetics*
  • Genes, Dominant*
  • Humans
  • Hypophosphatemia, Familial / drug therapy
  • Hypophosphatemia, Familial / genetics*
  • Kidney / metabolism*
  • Mutation*
  • Pedigree
  • Phosphates / administration & dosage
  • Phosphates / metabolism*
  • Phosphates / therapeutic use

Substances

  • Calcium Channel Agonists
  • FGF23 protein, human
  • Phosphates
  • Fibroblast Growth Factors
  • Fibroblast Growth Factor-23
  • Calcitriol