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NDT Advance Access originally published online on July 4, 2008
Nephrology Dialysis Transplantation 2008 23(9):2719-2722; doi:10.1093/ndt/gfn373
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© The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org


Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome

Leo Monnens1 and Elena Levtchenko2

1 Department of Physiology, Nijmegen Centre of Molecular Life Sciences, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands 2 Department of Pediatrics, University Hospital of Leuven, Leuven, Belgium

Correspondence and offprint requests to: Leo Monnens, Department of Physiology, NCMLS, Radboud University Medical Centre Nijmegen, PO 9101, 6500 HB, Nijmegen, The Netherlands. Tel: 31-24-3614211; Fax: 31-24-3616413; E-mail: l.monnens@cukz.umcn.nl

Keywords: low-molecular-weight proteinuria; lysosomal enzymuria; megalin; renal Fanconi syndrome

The first 150 words of the full text of this article appear below.



   Introduction
 
The study of the proximal tubular function in inherited renal Fanconi syndrome offers a unique opportunity to augment insights in proximal tubular transport and signalling pathways and allows a better interpretation of tests applied for the evaluation of proximal tubular function in acquired disorders. The causes of inherited and acquired renal Fanconi syndrome are listed in Table 1. It is a common practice to evaluate proximal tubular function by measuring the reabsorption of low-molecular-weight proteins (LMWP) and the excretion of lysosomal enzymes. New information became available due to extensive studies performed in Dent's disease, nephropathic cystinosis, Lowe syndrome and idiopathic Fanconi syndrome. Here we focus on the results obtained in these disorders.


View this table:



  		Table 1 Causes of renal Fanconi syndrome

 


   Molecular defects in Dent's disease, nephropathic cystinosis and Lowe syndrome
 
Dent's disease
Dent's disease is an X-linked proximal tubulopathy with Fanconi syndrome. Low-molecular-weight proteinuria is almost always present. Nephrocalcinosis and renal stone formation occur frequently. The disease is caused by molecular defects in the . . . [Full Text of this Article]

Cystinosis
Lowe syndrome


   Role of megalin/cubulin in the reabsorption of LMWP by the proximal tubule
 


   Lysosomal enzymuria
 


   Conclusion
 

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