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NDT Advance Access originally published online on April 20, 2007
Nephrology Dialysis Transplantation 2007 22(7):1849-1852; doi:10.1093/ndt/gfm098
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© The Author [2007]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Familial nephrotic syndrome: PLCE1 enters the fray*

Jonathan Ashley Jefferson and Stuart J. Shankland

Division of Nephrology, University of Washington, Seattle, Washington, USA

Correspondence and offprint requests to: Stuart J. Shankland, MD, Head, Division of Nephrology, University of Washington, 1959 NE Pacific Street, Box 356521, Seattle, Washington 98195, USA. Email: stuartjs@u.washington.edu

Keywords: focal segmental glomerulosclerosis; genetic disorders; nephrotic syndrome; phospholipase C; podocyte

The first 10% of the full text of this article appears below.



   Mutations in phospholipase C epsilon 1 gene cause early onset nephrotic syndrome
 
Marked advances in molecular biology are constantly enabling new insights into renal pathophysiology and the treatment of human disease. In the December 2006 issue of Nature Genetics, Hinkes et al. [1] describe a novel mechanism for early nephrotic syndrome in children due to mutations in PLCE1, a gene which encodes one of a family of phospholipase C enzymes (PLC{varepsilon}1). Affected children develop proteinuria by four years of age, with renal pathology demonstrating diffuse mesangial sclerosis (truncating mutations) or focal segmental glomerulosclerosis (missense mutations). The majority progress to end-stage renal disease by 5 years of age; however, of particular interest is that two children, both with truncating mutations in PLCE1, responded to treatment with . . . [Full Text of this Article]



   Nephrotic syndrome and the glomerular filtration barrier: is the podocyte slit diaphragm the principal determinant?
 


   Familial FSGS may be caused by inherited structural abnormalities in podocyte proteins
 


   PLCE1 may play a critical role in glomerular development
 


   Clinical applications
 

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