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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

Abstract

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.

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

KEYWORDS:

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

PMID:
23772861
[PubMed - indexed for MEDLINE]
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