Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred

Nephron. 2001 May;88(1):83-6. doi: 10.1159/000045964.

Abstract

We report a new kindred of hereditary hypophosphatemic rickets with hypercalciuria. The symptomatic child and several relatives had increased renal phosphate clearance leading to hypophosphatemia, hyperabsorptive hypercalciuria, low PTH and increased 1,25-(OH)2D serum level. However, association with vitamin D deficiency and normal urinary excretion of cyclic AMP might suggest another tubular defect in phosphate transport.

Publication types

  • Case Reports

MeSH terms

  • Calcium / urine*
  • Carrier Proteins / metabolism
  • Child
  • Cyclic AMP / urine
  • Family Health*
  • Female
  • Genes, Recessive
  • Humans
  • Hypophosphatemia, Familial / genetics*
  • Hypophosphatemia, Familial / urine*
  • Parathyroid Hormone / blood
  • Phosphate-Binding Proteins
  • Phosphates / urine

Substances

  • Carrier Proteins
  • Parathyroid Hormone
  • Phosphate-Binding Proteins
  • Phosphates
  • Cyclic AMP
  • Calcium