Nephronophthisis-like nephropathy-2 (NPHPL2) is an autosomal recessive cystic kidney disease characterized by onset of progressive renal insufficiency in the first decades of life. Renal imaging and biopsy show corticomedullary cysts, tubular ectasia, tubular basement membrane disruption, and tubulointerstitial infiltrations. Patients eventually progress to end-stage renal failure, necessitating kidney transplantation or dialysis (summary by Hurd et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100). [from OMIM]
- MedGen UID:
- 1794163
- •Concept ID:
- C5561953
- •
- Disease or Syndrome