Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban-Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele. The other, more common RD is juvenile nephronophthisis (NPHP), that presents a progressive interstitial fibrosis, associated with small cysts at the corticomedullary junction. NPHP is the most frequent genetic cause for end-stage RD in the first three decades of life. Symptoms start at approximately 6 years of age with urine concentrating defects, polydipsia, polyuria, and secondary enuresis.
Joubert Syndrome and Renal Implication / Conti, G.; Farello, G.; Ceravolo, M. D.; Fusco, M.; Cuppari, C.; Mancuso, A.; Ceravolo, I.; David, E.; Iapadre, G.; Scorrano, G.; Fiorile, M. F.; Chimenz, R.. - In: JOURNAL OF PEDIATRIC NEUROLOGY. - ISSN 1304-2580. - 21:1(2023), pp. 49-52. [10.1055/s-0042-1759541]
Joubert Syndrome and Renal Implication
David E.;
2023
Abstract
Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban-Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele. The other, more common RD is juvenile nephronophthisis (NPHP), that presents a progressive interstitial fibrosis, associated with small cysts at the corticomedullary junction. NPHP is the most frequent genetic cause for end-stage RD in the first three decades of life. Symptoms start at approximately 6 years of age with urine concentrating defects, polydipsia, polyuria, and secondary enuresis.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.