Glomerular sclerosis in kidneys with congenital nephrotic syndrome (NPHS1)

Kidney Int. 2006 Oct;70(8):1423-31. doi: 10.1038/sj.ki.5001779. Epub 2006 Aug 30.

Abstract

Congenital nephrotic syndrome of the Finnish type (NPHS1) is a rare genetic disease caused by mutations in the NPHS1 gene encoding a major podocyte slit-diaphragm protein, nephrin. Patients with NPHS1 have severe nephrotic syndrome from birth and develop renal fibrosis in early childhood. In this work, we studied the development of glomerular sclerosis in kidneys removed from 4- to 44-month-old NPHS1 patients. The pathological lesions and expression of glomerular cell markers were studied in nephrectomized NPHS1 and control kidneys using light and electron microscopy and immunohistochemistry. An analysis of 1528 glomeruli from 20 patients revealed progressive mesangial sclerosis and capillary obliteration. Although few inflammatory cells were detected in the mesangial area, paraglomerular inflammation and fibrosis was common. The podocytes showed severe ultrastructural changes and hypertrophy with the upregulation of cyclins A and D1. Podocyte proliferation, however, was rare. Apoptosis was hardly detected and the expression of antiapoptotic B-cell lymphoma-2 and proapoptotic p53 were comparable to controls. Moderate amounts of podocytes were secreted into the urine of NPHS1 patients. Shrinkage of the glomerular tuft was common, whereas occlusion of tubular opening or protrusion of the glomerular tuft into subepithelial space or through the Bowman's capsule were not detected. The results indicate that, in NPHS1 kidneys, the damaged podocytes induce progressive mesangial expansion and capillary obliteration. Podocyte depletion, glomerular tuft adhesion, and misdirected filtration, however, seem to play a minor role in the nephron destruction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis
  • Cell Proliferation
  • Child, Preschool
  • Disease Progression
  • Epithelium / pathology
  • Glomerular Mesangium / blood supply
  • Glomerular Mesangium / pathology
  • Humans
  • Hypertrophy
  • Infant
  • Kidney Glomerulus / blood supply
  • Kidney Glomerulus / pathology*
  • Membrane Proteins / genetics
  • Mutation
  • Nephrotic Syndrome / congenital*
  • Nephrotic Syndrome / genetics
  • Nephrotic Syndrome / pathology*
  • Podocytes / pathology
  • Sclerosis

Substances

  • Membrane Proteins
  • nephrin