Rene policistico
Table of Contents
Definizione
Il rene policistico nell’adulto è una malattia genetica molto comune, con un incidenza di 1 su 1000 ed è la principale causa di insufficienza renale nell’adulto. Nefropatia ereditaria caratterizzata dallo sviluppo di cisti multiple, che evolve in insufficienza renale cronica.
Eziologia
Forma adulta: malattia frequente (10% degli emodializzati e trapiantati renali), eredità autosomica dominante, associata a fegato policistico( 30% di casi) e ad aneurismi cerebrali.
Forma infantile: malattia rara autosomica recessiva spesso associata alla fibrosi epatica congenita.
Sintomi
Rene policistico dell’adulto: la malattia è generalmente diagnosticata in età adulta, tra 40 e 60 anni, per il riscontro di:
- Iperazotemia
- Ipertensione arteriosa
- Complicazione (ematuria, infezione o litiasi urinaria), in un malato che ha un’ anamnesi familiare di affezioni renali.
- Si palpano a volte i reni ingranditi nelle due logge renali.
- L’urografia e.v. mostra una disorganizzazione dell’albero pielocaliceale; i calici sono ingranditi, dilatati, allungati e deformati.
- L’ecografia o la TAC mostrano la presenza di cisti multiple nei reni e a volte nel fegato.
- Forma infantile: l’insufficienza renale può essere perinatale, neonatale infantile o della gioventù.
Prognosi
La forma dell’adulto evolve verso l’insufficienza renale scompensata 10-20 anni dopo l’inizio dei sintomi. La morte da incidente vascolare cerebrale è poco frequente.
Terapia
Prevenzione delle infezioni e della formazione di calcoli per cercare di ritardare l’evoluzione della malattia ma il danno renale non può essere bloccato. Il controllo dell’ ipertensione e della dislipidemia rallenta i sintomi ed evita sintomi più gravi. Il danno renale si manifesta come insufficienza renale cronica e progressiva fino all’ uremia e può essere trattata con emodialisi o trapianto renale. Data la fortissima penetranza del gene il consiglio genetico è molto importante per i figli di un malato affetto da rene policistico.
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