双基因Alport综合征研究进展

doi:10.12372/jcp.2024.23e1125

摘要/Abstract

摘要：

双基因Alport综合征特指在Alport综合征的3个致病基因（COL4A3、COL4A4和COL4A5）中存在两个不同基因的致病性变异，包括两种类型，其一为COL4A5合并COL4A3或COL4A4两个基因之一的致病性变异；其二为COL4A3和COL4A4两个基因的各一致病性变异。理论上，双基因Alport综合征的临床表型相对较单基因Alport综合征可能更重，特别是蛋白尿和肾功能异常的出现时间更早、程度更重，但需要多中心、大样本研究去证实。

关键词: Alport综合征, 双基因变异, COL4A3, COL4A4, COL4A5

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

张宏文. 双基因Alport综合征研究进展[J]. 临床儿科杂志, 2024, 42(11): 983-986.

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

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参考文献 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%