奥尔波特综合征的疾病谱扩展对相关疾病诊断、筛查和治疗的启示

doi:10.16150/j.1671-2870.2021.03.004

摘要/Abstract

关键词: 奥尔波特综合征, 诊断, 筛查, 治疗

中图分类号:

R692

林芙君, 蒋更如. 奥尔波特综合征的疾病谱扩展对相关疾病诊断、筛查和治疗的启示[J]. 诊断学理论与实践, 2021, 20(03): 245-250.

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参考文献 43

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遗传模式	突变基因	突变类型	临床特征	进展至ESRD风险
X连锁显性	COL4A5	纯合（男性）	进展至ESRD的概率以及出现肾外表现的时间受基因型影响	100%
X连锁显性	COL4A5	杂合（女性）	影响疾病进展的危险因素包括肉眼血尿、SNHL、蛋白尿、GBM增厚和分层	最高可至25%
常染色体隐性	COL4A3或 COL4A4	纯合或复合杂合	进展至ESRD的概率以及出现肾外表现的时间受基因型影响	100%
常染色体显性	COL4A3或 COL4A4	杂合	包括既往被诊断为TBMN/BFH的肾性血尿患者,影响疾病进展的危险因素有蛋白尿、FSGS、GBM增厚和分层、SNHL、患者或家系内成员有疾病进展的证据、合并修饰基因	有疾病进展危险因素的患者至少20%,无危险因素的患者<1%
双基因	COL4A3、 COL4A4及 COL4A5	COL4A3和COL4A4 基因反式突变	临床表现和遗传模式类似常染色体隐性遗传	最高可至100%
		COL4A3和COL4A4 基因顺式突变	临床表现和遗传模式类似常染色体显性遗传	最高可至20%
		COL4A5和COL4A3 或COL4A4基因突变	不符合孟德尔遗传模式	最高可至100% （男性患者）

奥尔波特综合征的疾病谱扩展对相关疾病诊断、筛查和治疗的启示

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