Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

Nephrol Dial Transplant. 2012 Mar;27(3):882-90. doi: 10.1093/ndt/gfr771. Epub 2012 Feb 14.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Adult
  • Genetic Predisposition to Disease*
  • Glomerulosclerosis, Focal Segmental / etiology*
  • Humans
  • Practice Guidelines as Topic*