Journal Article

Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

Ilse M. Rood, Jeroen K.J. Deegens and Jack F.M. Wetzels

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 27, issue 3, pages 882-890
Published in print March 2012 | ISSN: 0931-0509
Published online February 2012 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/gfr771
Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

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Focal segmental glomerulosclerosis (FSGS) is a common cause of steroid-resistant nephrotic syndrome in children and adults. Although FSGS is considered a podocyte disease, the aetiology is diverse. In recent years, many inheritable genetic forms of FSGS have been described, caused by mutations in proteins that are important for podocyte function. In the present commentary, we review these genetic causes of FSGS and describe their prevalence in familial and sporadic FSGS. In routine clinical practice, the decision to perform the costly DNA analysis should be based on the assessment if the results affect the care of the individual patient with respect to the evaluation of extra-renal manifestations, treatment decisions, transplantation and genetic counselling.

Keywords: adults; children; focal segmental glomerulosclerosis; mutation analysis; steroid-resistant nephrotic syndrome

Journal Article.  4854 words.  Illustrated.

Subjects: Nephrology

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