Identification of variant Alport phenotypes using an Alport-specific antibody probe.

Kidney International
C E KashtanA F Michael

Abstract

An antibody, which recognizes an epitope(s) on a 26 kD peptide of the noncollagenous domain of type IV collagen and which fails to bind to basement membranes of individuals with Alport syndrome, was used to characterize members of families representing phenotypic variants of the disorder. Ten of 11 families with juvenile-onset renal failure and 4 of 5 families with adult-onset renal failure exhibited loss of the epitope(s) from epidermal and/or renal basement membranes by indirect immunofluorescence. Two families with typical Alport nephropathy but normal hearing exhibited the same abnormality. This study provides strong evidence that a defect in the main noncollagenous domain of type IV collagen is common to the various phenotypes of Alport syndrome.

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Citations

Jul 1, 1990·Transplant International : Official Journal of the European Society for Organ Transplantation·M GoldmanC Toussaint
Sep 1, 1990·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·C E KashtanA J Fish
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Jan 14, 2004·Kidney International·Gemma BrowneA Neil Turner
Nov 1, 1990·Kidney International·C E KashtanB de Martinville
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Aug 17, 2006·Pediatric Transplantation·Clifford E Kashtan
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Dec 7, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Judy Savige
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Sep 7, 2018·Laryngoscope Investigative Otolaryngology·Omer J UngarFelipe Santos
Nov 1, 1996·Kidney International·C E Kashtan, A F Michael

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