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Articles linked to this work by shared authors, journal, and citation graph.

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Autosomal Dominant Alport Syndrome.

Journal of the American Society of Nephrology : JASN·2026
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Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.

Nature reviews. Nephrology·2026
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Alport syndrome: an update.

Judy Savige1

  • 1The University of Melbourne Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, Parkville, Victoria, AUSTRALIA.

Current Opinion in Nephrology and Hypertension
|January 22, 2025
PubMed
Summary

Alport syndrome, a common genetic kidney disease, is increasingly diagnosed due to genetic testing. Advances include new therapies and a better understanding of its diverse clinical features and genetic correlations.

Area of Science:

  • Nephrology
  • Genetics
  • Internal Medicine

Background:

  • Genetic testing for Alport syndrome is more accessible, leading to increased diagnoses.
  • Understanding of clinical outcomes, genotype-phenotype links, and therapies has advanced.
  • Alport syndrome is a significant cause of hereditary kidney disease.

Purpose of the Study:

  • To review recent advances in Alport syndrome diagnosis, understanding, and treatment.
  • To highlight the prevalence and clinical spectrum of Alport syndrome.
  • To inform clinicians about the diagnostic likelihood in patients with kidney abnormalities.

Main Methods:

  • Review of recent literature on Alport syndrome.
  • Analysis of genetic testing capabilities and limitations.

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  • Evaluation of genotype-phenotype correlations.
  • Assessment of emerging therapeutic strategies.

    • Main Results:

    • Proposal to rename Alport syndrome to 'Alport spectrum' to reflect diverse presentations.
    • Demonstration of Alport syndrome's high prevalence in patients with hematuria, proteinuria, or kidney failure.
    • Identification of limitations in current genetic testing for pathogenic variants.
    • Characterization of distinct genotype-phenotype correlations for autosomal dominant and X-linked forms.
    • Highlighting novel treatments like SGLT2 inhibitors and gene-modifying agents.

    Conclusions:

    • Autosomal dominant Alport syndrome is the most common genetic kidney disease; X-linked Alport syndrome is the second most common genetic cause of kidney failure.
    • Clinicians should consider Alport syndrome in patients with persistent glomerular hematuria, proteinuria, or kidney failure.
    • Autosomal dominant Alport syndrome frequently co-occurs with other kidney diseases, such as IgA nephropathy.