Nephronophthisis

What it means

Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.

Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli.

Rare diseases that can present with this3

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: juvenile nephronophthisis