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Published in: Pediatric Nephrology 1/2012

01-01-2012 | Educational Review

Women and Alport syndrome

Author: Michelle N. Rheault

Published in: Pediatric Nephrology | Issue 1/2012

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Abstract

X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males. Until recent decades, the disease burden in heterozygous “carrier” females was largely minimized or ignored. Heterozygous females have widely variable disease outcomes, with some affected females exhibiting normal urinalysis and kidney function, while others develop ESRD and deafness. While the determinants of disease severity in females with XLAS are uncertain, skewing of X-chromosome inactivation has recently been found to play a role. This review will explore the natural history of heterozygous XLAS females, the determinants of disease severity, and the utility of using XLAS females as kidney donors.
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Metadata
Title
Women and Alport syndrome
Author
Michelle N. Rheault
Publication date
01-01-2012
Publisher
Springer-Verlag
Published in
Pediatric Nephrology / Issue 1/2012
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-011-1836-7

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