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Nephrol Dial Transplant (2001) 16: 2412-2415
© 2001 European Renal Association-European Dialysis and Transplant Association

Case Report

Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B

Theofanis Apostolou, Nikoletta Nikolopoulou, Marios Theodoridis, Vassilios Koumoustiotis, Ekaterini Pavlopoulou, Dimitrios Chondros1 and Antonis Billis

Department of Nephrology and 1 Department of Computerised Tomography, ‘Evangelismos’ General Hospital, Athens, Greece

Keywords: cerebellar vermis hypoplasia; chronic interstitial nephritis; extra-renal manifestations; Joubert syndrome; juvenile nephronophthisis; medullary cystic disease; nystagmus



   Introduction
 
The familial juvenile nephronophthisis (NPH)–medullary cystic disease (MCD) complex is a heterogeneous group of hereditary tubulointerstitial nephropathies with remarkable clinical differences [1]. The complex is characterized histologically by the development of a chronic sclerosing tubulointerstitial nephropathy with tubular atrophy and dilatation. This process leads to end-stage renal disease [1]. Macroscopically, it results in bilateral formation of cysts usually at the corticomedullary junction of the kidneys.

NPH is the most common variant and the most common genetic cause of end-stage renal disease in the first two decades of life. It is an autosomal recessive interstitial nephritis frequently associated with extra-renal manifestations, mainly ocular disorders (Leber amaurosis, Senior–Loken syndrome), skeletal defects, hepatic fibrosis, and central nervous system abnormalities [1]. Joubert syndrome type B (JSB) represents a developmental disorder of the NPH complex with multiple organ involvement including aplasia of the cerebral vermis and retinal dystrophy [. . . [Full Text of this Article]



   Cases
 
Case 1
Case 2


   Discussion
 


   Acknowledgments
 


   Notes
 


   References
 

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