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Updated: Jun 11, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Pathological diagnosis of Alport syndrome
Kyoung Bun Lee1, Minsun Jung2, Beom Jin Lim2
1Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea.
Abstract:
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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