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European Journal of Pediatrics

Published in:

01-08-2012 | Review

Educational paper

The podocytopathies

Authors: Anja K. Büscher, Stefanie Weber

Published in: European Journal of Pediatrics | Issue 8/2012

Abstract

In the recent past, hereditary podocytopathies have increasingly been recognized to be involved in the development of steroid-resistant nephrotic syndrome (SRNS). Mutations in podocyte genes substantially alter the development and structural architecture of the podocyte including its interdigitating foot processes. These constitute the basis of the slit diaphragm which is an essential part of the glomerular filtration barrier. Depending on the affected protein, the clinical course is variable with respect to onset and severity of the disease as well as treatment options. In general, hereditary podocytopathies are associated with a poorer renal outcome than the non-genetic variants. In addition, they require a different approach with respect to the applied therapeutic strategies as most patients do not respond to immunosuppressive agents. Therefore, genetic testing of podocyte genes should be considered as a routine diagnostic tool for patients with SRNS because the identification of a genetic origin has a direct implication on clinical course, renal outcome, and genetic counseling. In this educational paper, we will give an overview over the podocyte genes identified so far to be involved into the pathophysiology of hereditary podocytopathies.

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Title: Educational paper
The podocytopathies
Authors: Anja K. Büscher
Stefanie Weber
Publication date: 01-08-2012
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 8/2012
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-011-1668-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Educational paper

The podocytopathies

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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