Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.
Kambham N., Tanji N., Seigle R.L., Markowitz G.S., Pulkkinen L., Uitto J., D'Agati V.D.
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.
Am. J. Kidney Dis. 36:190-196(2000) [PubMed] [Europe PMC]