Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the
most frequent genetic cause of end-stage kidney disease in the first three decades of life.
Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts
are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is dominant.
NPHP can be associated with retinitis pigmentosa (Senior-Løken syndrome), liver fibrosis,
and cerebellar vermis aplasia (Joubert syndrome) in approximately 10% of patients …