Alport Syndrome: Achieving Early Diagnosis and Treatment

Clifford E. Kashtan

Research output: Contribution to journalReview articlepeer-review

16 Scopus citations

Abstract

Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular abnormalities. The availability of effective intervention for Alport syndrome–related kidney disease makes early diagnosis crucial, but this can be impeded by the genotypic and phenotypic complexity of the disorder. This review presents an approach to enhancing early diagnosis and achieving optimal outcomes.

Original languageEnglish (US)
Pages (from-to)272-279
Number of pages8
JournalAmerican Journal of Kidney Diseases
Volume77
Issue number2
DOIs
StatePublished - Feb 1 2021

Bibliographical note

Funding Information:
This review was produced without any direct financial support. Dr Kashtan is a site investigator for the CARDINAL trial, sponsored by Reata Pharmaceuticals, and the HERA trial, sponsored by Sanofi-Genzyme. He has received research funding from the Novartis Institute for Biomedical Research; has recent or current consulting relationships with Daiichi-Sankyo, Ono Pharmaceuticals, and Retrophin; and is the Executive Director of the Alport Syndrome Treatments and Outcomes Registry (ASTOR; alportregistry.org), which is supported by the Alport Syndrome Foundation (alportsyndrome.org) and private donations. None of the entities listed had a role in defining the content of this review. Received January 2, 2020, in response to an invitation from the journal. Evaluated by 3 external peer reviewers, with direct editorial input from an Associate Editor and a Deputy Editor. Accepted in revised form March 24, 2020.

Funding Information:
Dr Kashtan is a site investigator for the CARDINAL trial, sponsored by Reata Pharmaceuticals, and the HERA trial, sponsored by Sanofi-Genzyme. He has received research funding from the Novartis Institute for Biomedical Research; has recent or current consulting relationships with Daiichi-Sankyo, Ono Pharmaceuticals, and Retrophin; and is the Executive Director of the Alport Syndrome Treatments and Outcomes Registry (ASTOR; alportregistry.org ), which is supported by the Alport Syndrome Foundation ( alportsyndrome.org ) and private donations. None of the entities listed had a role in defining the content of this review.

Publisher Copyright:
© 2020 National Kidney Foundation, Inc.

Keywords

  • Alport syndrome
  • COL4A3
  • COL4A4
  • COL4A5
  • basement membranes
  • collagen IV alpha chain
  • diagnosis
  • disease classification
  • genetic disease
  • hematuria
  • kidney failure
  • proteinuria
  • review
  • sensorineural hearing loss
  • thin basement membrane nephropathy
  • treatment
  • type IV collagen

PubMed: MeSH publication types

  • Journal Article
  • Review

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