Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa

Am J Kidney Dis. 2000 Jul;36(1):190-6. doi: 10.1053/ajkd.2000.8293.


We report the occurrence of congenital nephrotic-range proteinuria secondary to focal segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A homozygous missense mutation, R1281W, in exon 31 of the beta4 integrin gene, ITGB4, was identified. By immunofluorescence, beta4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes. This is the first demonstration of beta4 integrin expression in human glomeruli. We postulate a role for altered beta4 integrin function in the mediation of the glomerular permeability defect.

Publication types

  • Case Reports

MeSH terms

  • Antigens, CD / genetics*
  • Dermis / chemistry
  • Epidermolysis Bullosa, Junctional / complications*
  • Exons / genetics
  • Fluorescent Antibody Technique
  • Glomerulosclerosis, Focal Segmental / complications
  • Glomerulosclerosis, Focal Segmental / congenital*
  • Glomerulosclerosis, Focal Segmental / genetics*
  • Glomerulosclerosis, Focal Segmental / pathology
  • Homozygote
  • Humans
  • Infant, Newborn
  • Integrin beta4
  • Integrins / analysis
  • Integrins / genetics*
  • Kidney Glomerulus / chemistry
  • Kidney Glomerulus / pathology
  • Male
  • Mutation, Missense*
  • Pyloric Stenosis / complications
  • Pyloric Stenosis / congenital


  • Antigens, CD
  • Integrin beta4
  • Integrins