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Pediatric Nephrology
Published in: Pediatric Nephrology 8/2018

01-08-2018 | Educational Review

Renal, auricular, and ocular outcomes of Alport syndrome and their current management

Authors: Yanqin Zhang, Jie Ding

Published in: Pediatric Nephrology | Issue 8/2018

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Abstract

Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the type IV collagen alpha 3–5 chains. Most cases of Alport syndrome are inherited as X-linked dominant, and some as autosomal recessive or autosomal dominant. The primary manifestations are hematuria, proteinuria, and progressive renal failure, whereas some patients present with sensorineural hearing loss and ocular abnormalities. Renin–angiotensin–aldosterone system blockade is proven to delay the onset of renal failure by reducing proteinuria. Renal transplantation is a curative treatment for patients who have progressed to end-stage renal disease. However, only supportive measures can be used to improve hearing loss and visual loss. Although both stem cell therapy and gene therapy aim to repair the basement membrane defects, technical difficulties require more research in Alport mice before clinical studies. Here, we review the renal, auricular, and ocular manifestations and outcomes of Alport syndrome and their current management.
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Metadata
Title
Renal, auricular, and ocular outcomes of Alport syndrome and their current management
Authors
Yanqin Zhang
Jie Ding
Publication date
01-08-2018
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 8/2018
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-017-3784-3

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