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Acta Paediatr. 2013 Sep;102(9):844-56. doi: 10.1111/apa.12317. Epub 2013 Jul 10.

Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.

Author information

  • 1Department of Clinical Medicine - The Department of Pediatrics, Research Laboratory-A, Aarhus University Hospital, Aarhus N, Denmark. sjo@ki.au.dk


Identification of genes, associated mutations and genotype-phenotype correlations in steroid-resistant nephrotic syndrome (SRNS) is being translated to clinical practice through genetic testing. This review provides an update on the genes and mutations associated with SRNS along with a suggested approach for genetic testing in patients with SRNS.


The number of indentified genes associated with SRNS is increasing along with our understanding of their impact on treatment response and risk of recurrence. A systematic approach to genetic testing in patients with SRNS might aid the physician in selecting appropriate treatment.

©2013 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.


Gene mutations; Genetic testing; Nephrotic syndrome; Podocyte; Steroid resistance

[PubMed - indexed for MEDLINE]
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