nephronophthisis

Last reviewed 01/2018

Nephronophthisis is a congenital disease of the kidney with unknown incidence, but known to be a significant cause of inherited chronic renal failure.

There is progressive cortical atrophy as a result of the development of cysts from the tubules.

Patients usually present in their first decade with:

  • polyuria
  • proteinuria
  • polydipsia
  • anaemia
  • growth failure