Congenital focal segmental glomerulosclerosis associated with β4 integrin mutation and epidermolysis bullosa
N Kambham, N Tanji, RL Seigle, GS Markowitz… - American journal of …, 2000 - Elsevier
N Kambham, N Tanji, RL Seigle, GS Markowitz, L Pulkkinen, J Uitto, VD D'Agati
American journal of kidney diseases, 2000•ElsevierWe 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 β4 integrin gene, ITGB4, was
identified. By immunofluorescence, β4 integrin expression was reduced in both dermal
keratinocytes and glomerular podocytes. This is the first demonstration of β4 integrin
expression in human glomeruli. We postulate a role for altered β4 integrin function in the …
segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A
homozygous missense mutation, R1281W, in exon 31 of the β4 integrin gene, ITGB4, was
identified. By immunofluorescence, β4 integrin expression was reduced in both dermal
keratinocytes and glomerular podocytes. This is the first demonstration of β4 integrin
expression in human glomeruli. We postulate a role for altered β4 integrin function in the …
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 β4 integrin gene, ITGB4, was identified. By immunofluorescence, β4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes. This is the first demonstration of β4 integrin expression in human glomeruli. We postulate a role for altered β4 integrin function in the mediation of the glomerular permeability defect.
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