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Clinical Pediatrics
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Familial Juvenile Nephronophthisis

A Review and Differential Diagnosis

Arnaldo Cantani

Department of Pediatrics, University of Roma "La Sapienza", Division of Ophthalmology, Pediatric Hospital "Bambino Gesù" Roma, Italy

Gabriele Bamonte

Department of Pediatrics, University of Roma "La Sapienza", Division of Ophthalmology, Pediatric Hospital "Bambino Gesù" Roma, Italy

Daniel Ceccoli

Department of Pediatrics, University of Roma "La Sapienza", Division of Ophthalmology, Pediatric Hospital "Bambino Gesù" Roma, Italy

Gianni Biribicchi

Department of Pediatrics, University of Roma "La Sapienza", Division of Ophthalmology, Pediatric Hospital "Bambino Gesù" Roma, Italy

Francesco Farinella

Department of Pediatrics, University of Roma "La Sapienza", Division of Ophthalmology, Pediatric Hospital "Bambino Gesù" Roma, Italy

Familial juvenile nephronophthisis (FJN) is a frequent cause of chronic renal failure in children and adolescents. Typically it presents after 6 years of age through adolescence, but may become apparent in early childhood. The clinical presentation is insidious, and the early symptoms of polyuria and polydipsia are often overlooked in the presence of a relatively normal urinalysis and in the absence of proteinuria, azotemia, and hypertension. Thus most patients are not diagnosed until after the onset of renal failure. These children are excellent candidates for properly selected transplantation.

Clinical Pediatrics, Vol. 25, No. 2, 90-95 (1986)
DOI: 10.1177/000992288602500206
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 J. Am. Soc. Nephrol.Home page
F. Hildebrandt and W. Zhou
Nephronophthisis-Associated Ciliopathies
J. Am. Soc. Nephrol., June 1, 2007; 18(6): 1855 - 1871.
[Abstract] [Full Text] [PDF]