Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

Hum Mol Genet. 2009 Oct 15;18(R2):R185-94. doi: 10.1093/hmg/ddp328.


Urinary losses of macromolecules in nephrotic syndrome (NS) reflect a dysfunction of the highly permselective glomerular filtration barrier. Genetic studies of hereditary forms of NS have led to the identification of proteins playing a crucial role in slit-diaphragm signalling, regulation of actin cytoskeleton dynamics, maintenance of podocyte integrity and cell-matrix interactions. This review will focus on recent molecular and clinical findings in the field of genetics of NS, thereby providing a better understanding of the complex glomerular filtration barrier physiology.

Publication types

  • Review

MeSH terms

  • Animals
  • Cell-Matrix Junctions / pathology
  • Humans
  • Lysosomes / pathology
  • Mitochondria / pathology
  • Molecular Biology*
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / physiopathology*
  • Podocytes / pathology
  • Podocytes / physiology*