Cellular and Molecular Life Sciences CMLS

, Volume 63, Issue 21, pp 2506–2511

Focal and segmental glomerulosclerosis

Human Genome & Diseases: Review

DOI: 10.1007/s00018-006-6171-y

Cite this article as:
Daskalakis, N. & Winn, M.P. Cell. Mol. Life Sci. (2006) 63: 2506. doi:10.1007/s00018-006-6171-y


An increasing cause of end-stage renal disease is the pathological lesion focal and segmental glomerulosclerosis (FSGS). FSGS is characterized by proteinuria and frequently nephrotic syndrome with ensuing renal failure. The etiology remains unknown in the majority of individuals. The idiopathic form of FSGS is most common; however, secondary forms of FSGS do exist. There is a form of FSGS that is fulminant that frequently recurs after renal transplantation with an estimated frequency of approximately 30%, suggesting that the pathogenesis is not solely a result of intrinsic kidney disease. Recently, hereditary forms of the disease were recognized as well as those associated with other congenital syndromes. Known genetic causes of the hereditary form of this disease have been suggested to account for upwards of 18% of cases. This review will address recent discoveries of the genetic mechanisms of hereditary FSGS and the current interpretations of their interactions at the slit diaphragm.


Familial focal segmental glomerulosclerosisfamilial nephropathygeneticskidneyhereditaryTRPC6podocinnephrinACTN4

Copyright information

© Birkhäuser Verlag, Basel 2006

Authors and Affiliations

  1. 1.Duke University Medical CenterDurhamUSA
  2. 2.Center for Human GeneticsDuke University Medical CenterDurhamUSA