Conditions / Urinary

hypophosphatemic nephrolithiasis/osteoporosis 2

info ยท Urinary

A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.

Signs and symptoms

  • Osteoporosis
  • Osteopenia
  • Renal phosphate wasting
  • Hyperphosphaturia
  • Increased susceptibility to fractures
  • Kidney stone
  • Hypophosphatemia