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.
Conclusion: 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.
Keywords: Gene mutations; Genetic testing; Nephrotic syndrome; Podocyte; Steroid resistance.
©2013 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.