Nephronophthisis (NPHP) gives its name to a group of early-onset tubulointerstitial nephropathies that are characterized by a reduced ability of the kidney to concentrate urine, tubulointerstitial nephritis, renal cysticism and progression to late-stage renal failure before the third decade. 80% of individuals affected by nephronophthisis do not have extrarenal manifestations, although, in 20% of cases, they present nephronophthisis associated with syndromes such as Bardet-Biedl, Joubert, Senior-Løken, Meckel-Gruber, COACH, among others. Most of the genetic forms are autosomal recessive, with bi-allelic alteration ofgenes associated with the centrosome and ciliary function. There are three recognized forms of nephronophthisis: childhood, juvenile, and adolescent/adult.
It should be noted that approximately 10% of adults with unrelated CKD are due to the presence of the homozygous deletion of NPHP1.