nephronophthisis

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Disease Overview

Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.


Synonyms

  • medullary cystic disease
  • medullary cystic kidney
  • nephronophthisis
  • nephronophthisis (disease)medullary cystic disease
  • medullary cystic kidney
  • nephronophthisis
  • nephronophthisis (disease)