Journal of Clinical Pediatrics >
Advances in digenic Alport syndrome
Received date: 2023-11-21
Online published: 2024-11-08
Digenic Alport syndrome (AS) refers to two pathogenic variants in different genes of COL4A3, COL4A4 and COL4A5. This condition is categorized into two subtypes: one subtype results from a pathogenic variant in COL4A5 combined with another in either COL4A3 or COL4A4, while the other subtype arises from pathogenic variants in both COL4A3 and COL4A4. Although digenic AS is hypothesized to exhibit more pronounced clinical manifestations, particularly with respect to proteinuria and renal impairment, definitive evidence necessitates additional multicenter, large-sample studies for validation.
Key words： Alport syndrome; digenic; COL4A3; COL4A4; COL4A5
Hongwen ZHANG . Advances in digenic Alport syndrome[J]. Journal of Clinical Pediatrics, 2024 , 42(11) : 983 -986 . DOI: 10.12372/jcp.2024.23e1125
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