Redatto da: P.Parisella

La nefronoftisi  (NPHP) comprende un gruppo molto eterogeneo di malattie renali policistiche  causate dalla mutazione di geni (NPHP1-9) che codificano per proteine ciliari; si inquadra quindi nel gruppo delle ciliopatie di cui fanno parte varie altre sindromi come Usher, Joubert, Bardet-Biedl, Senior-Loken, Amaurosi Congenita di Leber, retinite pigmentosa legata all'X, Alstrom.  E' una patologia trasmessa con carattere autosomico recessivo e rappresenta la causa più frequente di insufficienza renale in età pediatrica (10-25% dei casi totali in Europa).

Il gene maggiormente implicato (25% dei casi) è NPHP1.

E' caratterizzata dalla presenza di multiple cisti renali corticomidollari ma si differenzia dalla altre patologie cistiche renali per la presenza di reni di ridotte dimensioni e per la prevalenza di fenomeni fibrotici che portano alla insufficienza renale.

L'inserimento della nefronoftisi nel gruppo delle ciliopatie spiega la presenza di anomalie interessanti altri organi ed apparati: fibrosi epatica, retinite pigmentosa, atassia, situs viscerum inversus e ritardo mentale. 

La diagnosi prenatale è possibile nelle famiglie a rischio mediante la ricerca della mutazione genetica.

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