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Alport Syndrome: Achieving Early Diagnosis and Treatment

American Journal of Kidney Diseases, ISSN: 0272-6386, Vol: 77, Issue: 2, Page: 272-279
2021
  • 92
    Citations
  • 0
    Usage
  • 169
    Captures
  • 2
    Mentions
  • 70
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    92
  • Captures
    169
  • Mentions
    2
    • News Mentions
      2
      • News
        2
  • Social Media
    70
    • Shares, Likes & Comments
      70
      • Facebook
        70

Most Recent News

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series

Introduction Alport syndrome (AS), also known as hereditary progressive nephritis, is an inherited glomerulopathy characterized by hematuria, proteinuria, and progressive kidney failure, with some patients

Review Description

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.

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