Genetic forms of steroid-resistant nephrotic syndrome are characterized by an unremitting clinical course, resistance to treatment and a favorable outcome after transplantation. The recognition of these diseases is essential, but difficult, owing to genetic and phenotypic heterogeneity. Such difficulties have led to the proposal of a systematic step-wise approach for mutational screening.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Santín, S. et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin. J. Am. Soc. Nephrol. 6, 1139–1148 (2011).
Benoit, G. et al. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr. Nephrol. 25, 1621–1632 (2010).
Hinkes, B. G. et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119, e907–e919 (2007).
Brown, E. J. et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat. Genet. 42, 72–76 (2010).
Boyer, O. et al. INF2, a major gene of autosomal dominant focal segmental glomerulosclerosis. J. Am. Soc. Nephrol. 22, 239–245 (2011).
Machuca, E. et al. Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int. 75, 727–735 (2009).
Kitamura, A. et al. Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome. Nephrol. Dial. Transplant. 21, 3133–3138 (2006).
Chemin, G. et al. Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatr. Nephrol. 23, 1455–1460 (2008).
Büscher, A. K. et al. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin. J. Am. Soc. Nephrol. 5, 2075–2084 (2010).
Wasilewska, A. M., Kuroczycka-Saniutycz, E. & Zoch-Zwierz, W. Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutations. Eur. J. Pediatr. 170, 389–391 (2011).
Author information
Authors and Affiliations
Ethics declarations
Competing interests
The author declares no competing financial interests.
Rights and permissions
About this article
Cite this article
Gubler, M. Genetic testing in steroid-resistant nephrotic syndrome. Nat Rev Nephrol 7, 430–431 (2011). https://doi.org/10.1038/nrneph.2011.75
Published:
Issue Date:
DOI: https://doi.org/10.1038/nrneph.2011.75
This article is cited by
-
A multicolor podocyte reporter highlights heterogeneous podocyte changes in focal segmental glomerulosclerosis
Kidney International (2014)
-
The Drosophila nephrocyte has a glomerular filtration system
Nature Reviews Nephrology (2014)
-
The Drosophila nephrocyte has a glomerular filtration system
Nature Reviews Nephrology (2014)
