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01-07-2010 | Original Article

Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations

Authors: Jutta Gellermann, Constantinos J. Stefanidis, Andromachi Mitsioni, Uwe Querfeld

Published in: Pediatric Nephrology | Issue 7/2010

Abstract

The Wilms’ tumor suppressor gene 1 (WT1) encodes a transcription factor involved in kidney and gonadal development. WT1 is also a key regulator of podocyte functions and mutations have been found in a small percentage of children with isolated or syndromal steroid-resistant nephrotic syndrome. It is commonly assumed that the nephrotic syndrome (NS) in patients with WT1 mutations is unresponsive to therapy and characterized by rapid progression to end-stage renal disease. We report long-term observations in 3 children with focal–segmental glomerulosclerosis associated with WT1 mutations and NS (2 cases) or nephrotic range proteinuria (1 case). All patients showed a favorable response to an intensified therapy consisting of cyclosporin A (CyA) in combination with induction therapy with intravenous and oral prednisone. Treatment with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers was added to the regimen at various times. As shown both by the short-term response and during long-term follow-up, this treatment resulted in clinical remission of the NS and/or significant reduction of proteinuria, while normal renal function could be maintained over many years. Thus, glomerular diseases in selected patients with mutations in genes regulating renal development and podocyte function may respond to combination therapy with CyA and corticosteroids.

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Title: Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations
Authors: Jutta Gellermann
Constantinos J. Stefanidis
Andromachi Mitsioni
Uwe Querfeld
Publication date: 01-07-2010
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 7/2010
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-010-1468-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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