Joubert Syndrome and Renal Implication

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.

Keywords

Joubert syndrome - cystic renal dysplasia - end-stage renal disease

Authors' Contributions

Conceptualization: R.C., G.C.; Investigation: G.F., M.D.C.; Resources: M.F.; Data curation: A.M.; Writing-original draft preparation: I.C., E.D.; Writing review and editing: G.I; Supervision: G.S., E.G., M.F.F.

All authors have read and agreed to the published version of the manuscript.

Data Availability Statement

The data presented in this study are available on request from the corresponding author.

Publication History

Received: 22 August 2022

Accepted: 27 October 2022

Article published online:
01 December 2022

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