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Nefronoftisi


Definizione 

La Nefronoftisi è una nefrite interstiziale congenita o ereditaria del bambino o dell’adulto che evolve nell’insufficienza renale cronica.

Eziologia

Nefropatia ereditaria.

Si distinguono:

  • Forme sporadiche: possono a volte essere acquisite.
  • Forme del bambino: a trasmissione recessiva, si accompagnano nel 15-20% dei casi a retinite pigmentaria.
  • Forme dell’adulto giovane: sono a trasmissione dominante.


Anatomia patologica

Atrofia e fibrosi dei reni, con formazione di piccole cisti corticali e midollari. Al microscopio, nefrite interstiziale.

Sintomi della nefronoftisi

  • Perdita del potere di concentrazione delle urine.
  • Poliuria
  • Nicturia
  • Polidipsia
  • Ipernatriuria con iponatriemia
  • Ipercloremia
  • Acidosi metabolica

L’assenza di proteinuria, anche ad uno stadio molto avanzato, di ematuria e di cilindruria è caratteristica. L’urografia e.v. o la scintigrafia renale mostrano dei reni di volume diminuito. Dato il loro scarso volume, le cisti sono difficili da mettere in evidenza al puntato-biopsia-renale, ecotomografia, TAC o angiografia renale.

 


Prognosi

La nefronoftisi progredisce sempre più o meno rapidamente verso l’ insufficienza renale e verso la dialisi. La malattia non recidiva sul trapianto renale.

 


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