Conditions / Urinary

hypophosphatemic nephrolithiasis/osteoporosis 1

info ยท Urinary

A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.

Signs and symptoms

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