肝细胞核因子1B基因新突变引起常染色体显性遗传性肾小管间质性肾病

被引：2

作者：

乔盼盼 ^{[1
,2
]}

吴杭迪 ^{[1
,2
]}

徐倩 ^{[1
,2
]}

任红 ^{[1
]}

杨俪 ^{[1
]}

郭以晴 ^{[1
]}

谢静远 ^{[1
]}

俞夏莲 ^{[1
]}

王朝晖 ^{[1
]}

陈楠 ^{[1
]}

机构：

[1] 上海交通大学医学院附属瑞金医院肾脏内科

[2] 上海交通大学医学院

来源：

内科理论与实践 | 2017年 / 12卷 / 04期

关键词：

常染色体显性遗传性肾小管间质性肾病; 肝细胞核因子1B; 高尿酸血症;

D O I：

10.16138/j.1673-6087.2017.04.009

中图分类号：

R692 [肾疾病];

学科分类号：

1002 ; 100210 ;

摘要：

目的:探讨1例常染色体显性遗传性肾小管间质性肾病肝细胞核因子1B(ADTKD-HNF1B)型的临床特征、诊断和致病基因突变等,同时进行文献复习。方法:通过阅读文献确定纳入标准,收集ADTKD-HNF1B疑似病例相关数据及抽提DNA,利用目的基因捕获测序技术进行HNF1B等基因突变筛查。调查分析患者的临床特征,并收集家系相关成员DNA行基因突变筛查验证。结果:患者有高尿酸血症及慢性肾功能不全特征,存在HNF1B基因杂合突变及EYA1基因杂合突变,2种基因突变位点保守性强,Polyphen2软件评分分别为0.999、0.473,Mutation Taster软件显示突变位点均为致病突变。结论:ADTKD-HNF1B是一种以慢性肾功能不全为特征的常染色体显性遗传性疾病,可伴有早发型高尿酸血症和(或)痛风病史,但对疑似ADTKD-HNF1B患者进行评估筛选仍需进一步研究支持。

引用

页码：274 / 278

页数：5

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