Conditions / Urinary

nephronophthisis 4

info ยท Urinary

A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31.

Signs and symptoms

  • Stage 5 chronic kidney disease
  • Tubulointerstitial fibrosis
  • Polydipsia
  • Anemia
  • Nephronophthisis
  • Renal corticomedullary cysts
  • Renal tubular atrophy
  • Polyuria
  • Growth delay

Also known as: NPHP4; juvenile nephronophthisis 4