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

Clifford Kashtan, C. L. Atkin, M. C. Gregory, A. F. Michael

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)669-674
Number of pages6
JournalKidney international
Volume36
Issue number4
DOIs
StatePublished - 1989

Bibliographical note

Funding Information:
prepared the illustrations. This work was supported by grants from the National Kidney Foundation, Minnesota Medical Foundation, Viking Childrens Fund, Hereditary Nephritis Foundation, and the National Institutes of Health (A110704, DK25518, NS12125 and DK39497).

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