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DOI: 10.1055/s-0035-1557109
The Genetics of Nephrotic Syndrome
Publikationsverlauf
05. Dezember 2014
21. Januar 2015
Publikationsdatum:
13. August 2015 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00029027/201601/lookinside/thumbnails/10-1055-s-0035-1557109_14143-1.jpg)
Abstract
Nephrotic syndrome (NS) is a common pediatric kidney disease and is defined as massive proteinuria, hypoalbuminemia, and edema. Dysfunction of the glomerular filtration barrier, which is made up of endothelial cells, glomerular basement membrane, and visceral epithelial cells known as podocytes, is evident in children with NS. While most children have steroid-responsive nephrotic syndrome (SSNS), approximately 20% have steroid-resistant nephrotic syndrome (SRNS) and are at risk for progressive kidney dysfunction. While the cause of SSNS is still not well understood, there has been an explosion of research into the genetic causes of SRNS in the past 15 years. More than 30 proteins regulating the function of the glomerular filtration barrier have been associated with SRNS including podocyte slit diaphragm proteins, podocyte actin cytoskeletal proteins, mitochondrial proteins, adhesion and glomerular basement membrane proteins, transcription factors, and others. A genetic cause of SRNS can be found in approximately 70% of infants presenting in the first 3 months of life and 50% of infants presenting between 4 and 12 months, with much lower likelihood for older patients. Identification of the underlying genetic etiology of SRNS is important in children because it allows for counseling of other family members who may be at risk, predicts risk of recurrent disease after kidney transplant, and predicts response to immunosuppressive therapy. Correlations between genetic mutation and clinical phenotype as well as genetic risk factors for SSNS and SRNS are reviewed in this article.
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