nephronophthisis
Pronunciation: NEF-roe-nof-THY-sis
A group of autosomal recessive cystic kidney diseases characterized by chronic tubulointerstitial nephritis and progressive kidney failure in childhood.
Full Definition
Nephronophthisis is a genetic disorder representing the most common inherited cause of chronic kidney disease in children and adolescents. The condition is characterized by chronic tubulointerstitial nephritis with tubular basement membrane disruption, interstitial fibrosis, and small cysts primarily at the corticomedullary junction. Clinical presentation typically includes polyuria, polydipsia, anemia, growth retardation, and progressive decline in kidney function leading to end-stage renal disease by age 10-15 years. Unlike other cystic kidney diseases, nephronophthisis often presents with normal or small kidney size on imaging. The disease may be associated with extrarenal manifestations including retinal degeneration, liver fibrosis, or cerebellar abnormalities, depending on the genetic subtype.
Usage
Usage note: Often abbreviated as NPHP in genetic contexts; specify the genetic subtype when known.
In Context
- "Genetic testing confirmed nephronophthisis type 1 with mutations in the NPHP1 gene." — Genetics laboratory report
- "The patient's nephronophthisis progressed to end-stage renal disease requiring transplant evaluation." — Transplant referral letter