Joubert Syndrome and Renal Implication

Giovanni Conti; Giovanni Farello; Maria Domenica Ceravolo; Monica Fusco; Caterina Cuppari; Alessio Mancuso; Ida Ceravolo; Emanuele David; Giulia Iapadre; Giovanna Scorrano; Maria Francesca Fiorile; Roberto Chimenz

doi:10.1055/s-0042-1759541

Journal of Pediatric Neurology, Inhaltsverzeichnis

Journal of Pediatric Neurology 2023; 21(01): 049-052
DOI: 10.1055/s-0042-1759541

Review Article

Joubert Syndrome and Renal Implication

Autor*innen

Giovanni Conti

¹Unit of Pediatric Nephrology and Rheumatology, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
Giovanni Farello

²Department of Life, Health and Environmental Sciences, Pediatric Clinic, Coppito (AQ), Italy
Maria Domenica Ceravolo

³Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
Monica Fusco

³Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
Caterina Cuppari

³Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
Alessio Mancuso

³Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
Ida Ceravolo

⁴Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
Emanuele David

⁵Ragnostic Unit, A. O. Papardo, Messina, Italy

⁶Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy
Giulia Iapadre

⁷Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
Giovanna Scorrano

⁷Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
Maria Francesca Fiorile

⁷Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
Roberto Chimenz

¹Unit of Pediatric Nephrology and Rheumatology, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

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

Volltext

Referenzen

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