The dysregulated glomerular cell growth in Denys-Drash syndrome

Virchows Arch. 2004 Sep;445(3):305-14. doi: 10.1007/s00428-004-1069-2. Epub 2004 Jul 1.

Abstract

While diffuse mesangial sclerosis is traditionally described as being the glomerulopathy of Denys-Drash syndrome (DDS), the podocyte proliferative lesions may be overlooked in these DDS cases. In the present study, an evolving process is extrapolated from a selected case of DDS that demonstrated glomerulopathy with conspicuous podocyte proliferation. The observation that podocytes express proliferation markers (Ki67, proliferating-cell nuclear antigen and topoisomerase IIalpha) in non-proliferative, mature-looking glomeruli suggests an initial pathogenic act to activate or to keep podocytes from quiescence. The subsequent proliferation of podocytes is in keeping with downregulation of WT1 and cyclin kinase inhibitors of p16 and p21. The emergence of cytokeratin-positive cells in glomeruli that show typical mesangial sclerosis implies elimination of podocytes and replacement with tubular and/or parietal epithelial cells. The final scene of evolving glomerulopathy displays apoptosis and expression of Fas-L and Bax in sclerotic mesangial lesions, which eventually end up with global sclerosis. This novel concept of DDS glomerulopathy implies complex molecular mechanisms involved in glomerular injury.

Publication types

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

MeSH terms

  • Antigens, Neoplasm
  • Apoptosis / physiology
  • Cell Division
  • Cyclin-Dependent Kinase Inhibitor p16 / metabolism
  • DNA Topoisomerases, Type II / metabolism
  • DNA-Binding Proteins
  • Denys-Drash Syndrome / complications
  • Denys-Drash Syndrome / metabolism
  • Denys-Drash Syndrome / pathology*
  • Fas Ligand Protein
  • Humans
  • Immunohistochemistry
  • In Situ Nick-End Labeling
  • Ki-67 Antigen / metabolism
  • Kidney Diseases / etiology
  • Kidney Diseases / metabolism
  • Kidney Diseases / pathology*
  • Kidney Glomerulus / metabolism
  • Kidney Glomerulus / pathology*
  • Male
  • Membrane Glycoproteins / metabolism
  • Mutation
  • Proliferating Cell Nuclear Antigen / metabolism
  • Proto-Oncogene Proteins c-bcl-2 / metabolism
  • WT1 Proteins / genetics
  • WT1 Proteins / metabolism
  • bcl-2-Associated X Protein

Substances

  • Antigens, Neoplasm
  • BAX protein, human
  • Cyclin-Dependent Kinase Inhibitor p16
  • DNA-Binding Proteins
  • FASLG protein, human
  • Fas Ligand Protein
  • Ki-67 Antigen
  • Membrane Glycoproteins
  • Proliferating Cell Nuclear Antigen
  • Proto-Oncogene Proteins c-bcl-2
  • WT1 Proteins
  • bcl-2-Associated X Protein
  • DNA Topoisomerases, Type II