Alport 综合征诊断和治疗专家推荐意见

2018-03-30 肾脏病相关专家小组(统称) 中华肾脏病杂志.2018,34(3):227-231.

Alport 综合征(Alport syndrome)亦称遗传性进行性肾炎,临床特点是血尿、蛋白尿及进行性肾功能减退,部分患者可合并感音神经性耳聋、眼部异常、食管平滑肌瘤等肾外表现。该病由编码肾小球基底膜Ⅳ型胶原α3~α5链的基因COL4An(n=3,4,5)基因突变所致。约85%的Alport 综合征患者是COL4A5 或COL4A5 和COL4A6 两个基因突变导致的X 连锁显性遗传型Alpo

中文标题:

Alport 综合征诊断和治疗专家推荐意见

发布日期:

2018-03-30

简要介绍:

Alport 综合征(Alport syndrome)亦称遗传性进行性肾炎,临床特点是血尿、蛋白尿及进行性肾功能减退,部分患者可合并感音神经性耳聋、眼部异常、食管平滑肌瘤等肾外表现。该病由编码肾小球基底膜Ⅳ型胶原α3~α5链的基因COL4An(n=3,4,5)基因突变所致。约85%的Alport 综合征患者是COL4A5 或COL4A5 和COL4A6 两个基因突变导致的X 连锁显性遗传型Alport 综合征(X⁃linked Alport syndrome,XL Alport 综合征,OMIM 301050),其中男性患者病情较重,40岁前肾衰竭的比例达90%,女性患者病情相对较轻。约15%的Alport 综合征患者是COL4A3 或COL4A4 基因突变导致的常染色体遗传型Alport 综合征,其中以常染色体隐性遗传型Alport 综合征(autosomal recessive Alport syndrome,AR Alport 综合征,OMIM 203780)患者为主,几乎均在30 岁前出现肾衰竭。为进一步提高和规范临床对Alport综合征的诊断和治疗,在广泛征求国内相关儿科专家及部分肾内科专家意见的基础上,结合国际上对该病的诊疗意见,形成推荐建议。 

拓展指南:肾炎相关指南:

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Alport 综合征诊断和治疗专家推荐意见
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    2022-07-08 ms1000000507485908

    0

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    2021-04-21 853704753

    方便

    0

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    2021-04-21 853704753

    很好的文献检索平台

    0

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    2020-11-05 ms8000001032906359

    学习学习

    0

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    2018-06-09 明月清辉

    谢谢分享.学习了

    0