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Am J Kidney Dis. 2000 Jul;36(1):190-6.

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

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  • 1Departments of Pathology and Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA.

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.

PMID:
10873890
[PubMed - indexed for MEDLINE]
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