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Published in: Pediatric Nephrology 9/2010

01-09-2010 | Review

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

Authors: Geneviève Benoit, Eduardo Machuca, Corinne Antignac

Published in: Pediatric Nephrology | Issue 9/2010

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Abstract

Several genes have been implicated in genetic forms of nephrotic syndrome occurring in children. It is now known that the phenotypes associated with mutations in these genes display significant variability, rendering genetic testing and counselling a more complex task. This review will focus on the recent clinical findings associated with those genes known to be involved in isolated steroid-resistant nephrotic syndrome in children and, thereby, propose an approach for appropriate mutational screening. The recurrence of proteinuria after transplantation in patients with hereditary forms of nephrotic syndrome will also be discussed.
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Metadata
Title
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations
Authors
Geneviève Benoit
Eduardo Machuca
Corinne Antignac
Publication date
01-09-2010
Publisher
Springer-Verlag
Published in
Pediatric Nephrology / Issue 9/2010
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-010-1495-0

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