What is nephronophthisis?
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that is now known to be included in a growing class of disorders called ciliopathies. NPHP is characterized by chronic tubulointerstitial nephritis with eventual progression to ESKD.
NPHP is believed to account for 5% of pediatric ESKD in the United States and 10% to 25% of pediatric ESKD in Europe, and is therefore the most frequent genetic cause of ESKD in the first three decades of life. The three forms of NPHP include infantile (NPHP2), juvenile (NPHP1), and adolescent (NPHP3), with variable ages of onset. Juvenile NPHP accounts for the majority of affected individuals.