Nephronophthisis
Genetic tubulointerstitial scarring leading to childhood kidney failure.
What it is
A ciliopathy that causes interstitial fibrosis and cyst formation, ultimately progressing to kidney failure.
Prevalence
Estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in 922,000 in the United States.
Symptoms to watch
Excessive thirst and urination, fatigue, weakness, anemia, development of kidney cysts.
Treatment options
Close monitoring, blood-pressure and anemia management, addressing structural anomalies, and dialysis or transplant when function declines.
