Pathological diagnosis of Alport syndrome

Alport syndrome (AS) is a hereditary nephritis characterized by structural abnormalities in the glomerular basement membrane resulting from pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Conventional pathological evaluations reveal nonspecific light microscopic changes and diagnostic c...

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Bibliographic Details
Published inKidney research and clinical practice Vol. 44; no. 3; pp. 406 - 410
Main Authors Lee, Kyoung Bun, Jung, Minsun, Lim, Beom Jin
Format Journal Article
LanguageEnglish
Published Korea (South) The Korean Society of Nephrology 01.05.2025
대한신장학회
Subjects
Review
내과학
Differential diagnosis
Glomerular basement membrane
Focal segmental glomerulosclerosis
Collagen type IV
Alport syndrome
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ISSN2211-9132
2211-9140
2211-9140
DOI10.23876/j.krcp.24.063

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Summary:Alport syndrome (AS) is a hereditary nephritis characterized by structural abnormalities in the glomerular basement membrane resulting from pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Conventional pathological evaluations reveal nonspecific light microscopic changes and diagnostic clues can be obtained through electron microscopy. Type IV collagen staining elucidates distinct patterns based on AS inheritance, aiding in subtype classification. However, limitations arise, particularly in autosomal dominant cases. Genetic testing, particularly next-generation sequencing, gains prominence due to its ability to identify diverse mutations within COL4A3, COL4A4, and COL4A5.
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ISSN:2211-9132
2211-9140
2211-9140
DOI:10.23876/j.krcp.24.063