Joubert Syndrome and Renal Implication

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.