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Review
. 2017 Jan 17:6:50.
doi: 10.12688/f1000research.9636.1. eCollection 2017.

Alport syndrome: facts and opinions

Clifford Kashtan  1
Affiliations
Review

Alport syndrome: facts and opinions

Clifford Kashtan. F1000Res. .

Abstract

In this commentary, I review recent advances in Alport syndrome genetics, diagnostics, and therapeutics. I also offer some opinions regarding strategies to optimize the early identification of affected individuals to promote early therapeutic intervention.

Keywords: Alport syndrome; COL4A3; COL4A4; COL4A5; collagen IV alpha-345 network; end-stage renal disease.

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Conflict of interest statement

The Alport Syndrome Treatments and Outcomes Registry (ASTOR, alportregistry.org), of which the author is Executive Director, is supported by the Alport Syndrome Foundation, the Kenneth and Claudia Silverman Family Foundation, and the Schuman and Pedersen families and participates in the Athena Study sponsored by Regulus Therapeutics (Clinicaltrials.gov identifier NCT02136862). The author has served as a consultant to Regulus Therapeutics and Roche. ASTOR has also received research support from NIDDK and the Novartis Institute for Biomedical Research. No competing interests were disclosed. No competing interests were disclosed.

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