双基因Alport综合征研究进展

doi:10.12372/jcp.2024.23e1125

Abstract

Abstract:

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

ZHANG Hongwen. Advances in digenic Alport syndrome[J].Journal of Clinical Pediatrics, 2024, 42(11): 983-986.

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References 26

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遗传型	基因	终末期肾脏病危险性
XLAS	COL4A5	男性100%、女性可达25%
ARAS	COL4A3或COL4A4（纯合或复合杂合）	100%
ADAS	COL4A3或COL4A4（单一位点）	100%¹⁾
双基因AS	COL4A5合并COL4A3或COL4A4	男性100%、女性可达50%
双基因AS	COL4A3合并COL4A4	反式100%、顺式可达20%

Advances in digenic Alport syndrome

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