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Congenital focal segmental glomerulosclerosis associated with beta 4 integrin mutation and epidermolysis bullosa AMERICAN JOURNAL OF KIDNEY DISEASES Kambham, N., Tanji, N., Seigle, R. L., Markowitz, G. S., Pulkkinen, L., UITTO, J., D'Agati, V. D. 2000; 36 (1): 190-196

Abstract

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.

View details for Web of Science ID 000088007700026

View details for PubMedID 10873890