Genetics of focal segmental glomerulosclerosis

Pediatr Nephrol. 2007 May;22(5):638-44. doi: 10.1007/s00467-007-0445-y. Epub 2007 Mar 9.


The recent advances in understanding the pathophysiology of focal segmental glomerulosclerosis (FSGS) and molecular function of glomerular filtration barrier come directly from genetic linkage and positional cloning studies. The exact role and function of the newly discovered genes and proteins are being investigated by in vitro and in vivo mechanistic studies. Those genes and proteins interactions seem to change susceptibility to kidney disease progression. Better understanding of their exact role in the development of FSGS may influence future therapies and outcomes in this complex disease.

MeSH terms

  • Actinin / genetics
  • Chromosome Mapping
  • Glomerulosclerosis, Focal Segmental / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Membrane Proteins / genetics
  • Microfilament Proteins / genetics
  • Phosphoinositide Phospholipase C
  • Type C Phospholipases / genetics


  • ACTN4 protein, human
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Microfilament Proteins
  • NPHS2 protein
  • nephrin
  • Actinin
  • Type C Phospholipases
  • Phosphoinositide Phospholipase C
  • phospholipase C epsilon