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Digenic Alport Syndrome.

Judy Savige1, Alessandra Renieri2,3,4, Elisabet Ars5

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

Clinical Journal of the American Society of Nephrology : CJASN
|June 8, 2022
PubMed
Summary
This summary is machine-generated.

Digenic Alport syndrome involves variants in collagen genes, with outcomes varying by sex, variant severity, and inheritance patterns. Understanding these genetic combinations is key for diagnosis and family counseling.

Keywords:
Alport syndromeCOL4A3COL4A4COL4A5 genescollagendigenic Alport syndromegenetic renal diseasekidney failureproteinuria

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Area of Science:

  • Genetics
  • Nephrology
  • Molecular Biology

Background:

  • Alport syndrome is a genetic kidney disorder caused by mutations in collagen IV genes.
  • Digenic Alport syndrome results from pathogenic variants in two different collagen genes (COL4A3, COL4A4, COL4A5).

Purpose of the Study:

  • To elucidate the complex inheritance patterns and clinical consequences of digenic Alport syndrome.
  • To highlight the impact of sex and specific gene variant combinations on disease severity.

Main Methods:

  • Review of genetic inheritance patterns for COL4A3, COL4A4, and COL4A5.
  • Analysis of how variant combinations affect collagen IV heterotrimer formation and disease presentation.

Main Results:

  • Digenic inheritance involving COL4A5 shows sex-specific outcomes, with women experiencing more severe effects with additional COL4A3/COL4A4 variants.
  • Pathogenic variants in both COL4A3 and COL4A4 lead to 75% heterotrimer dysfunction, increased proteinuria, and intermediate kidney failure.
  • Inheritance of COL4A3/COL4A4 variants can be autosomal dominant (in cis) or recessive (in trans), influencing disease progression.

Conclusions:

  • Accurate identification and reporting of digenic Alport syndrome variants are crucial for patient management.
  • Genetic counseling and family screening are essential for individuals with digenic Alport syndrome.
  • Recommendations include treating affected family members and discouraging kidney donation from them.