nephronophthisis

Last reviewed 01/2018

• this is an inherited medullary cystic disease
• the juvenile form of nephronophthias is inherited as an autosomal recessive trait - this form causes 10-20% of cases of paediatric end-stage renal failure
• clinical features include:
• urinary symptoms - polyuria, polydipsia, enuresis
• biochemical - metabolic acidosis, renal impairment, end-stage renal failure
• anaemia and growth retardation
• extrarenal manifestations include:
  • retinitis pigmentosa
  • retinal degeneration
  • cerebellar ataxia
  • liver fibrosis

The adult form of nephronophthisis is inherited as an autosomal dominant trait. This condition does not have extrarenal manifestations. It is rare.