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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