Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier

J Mol Med (Berl). 2009 Sep;87(9):849-57. doi: 10.1007/s00109-009-0505-9. Epub 2009 Aug 1.

Abstract

Nephrotic syndrome is caused by increased permeability of the glomerular filtration barrier for macromolecules. The identification of mutations of various podocyte-expressed proteins as causes of familial nephrotic syndrome has significantly contributed to shedding light into the molecular pathogenesis of nephrotic proteinuria and into the physiology of the glomerular sieve. More recent findings have changed our conception of the glomerular filtration barrier from a relatively static structure to a highly dynamic one. Both the multiprotein slit diaphragm complex around nephrin and the integrin receptor complex that mediates binding of the podocyte to the glomerular basement membrane, may translate outside-inside signaling and lead to podocyte actin cytoskeleton rearrangement. This may enable the podocyte network to adapt to environmental changes and respond to injury. Disturbance in these processes may not only be involved in the pathogenesis of hereditary nephrotic syndrome but also in that of more common acquired proteinuric diseases. Elucidation of the molecular mechanisms involved will possibly open the way to new therapeutic approaches.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cytoskeleton
  • Humans
  • Kidney Glomerulus / physiology*
  • Nephrotic Syndrome / genetics*
  • Permeability
  • Podocytes / ultrastructure