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Nephronophthisis

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

  • 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.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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