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  

Autosomal dominant tubulointerstitial kidney disease caused by a novel hepatocyte nuclear factor 1B mutation

作　　者：乔盼盼[1,2] 吴杭迪 徐倩 任红[1] 杨俪 郭以晴[1] 谢静远[1] 俞夏莲 王朝晖[1] 陈楠 

机构地区：[1]上海交通大学医学院附属瑞金医院肾脏内科,上海200025 [2]上海交通大学医学院,上海200025

出　　处：《内科理论与实践》2017年第4期274-278,共5页Journal of Internal Medicine Concepts & Practice

基　　金：国家重点基础研究发展计划(973计划)(项目编号:2012CB517604);国家自然科学基金项目(项目编号:81170634)

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。Objective To study the clinical symptoms, pathologic characteristics and research progress of an autosomal dominant tuhulointerstitial kidney disease-hepatocyte nuclear factor 1B （ADTKD-HNF1B） and review of literature. Methods ADTKD-HNF1B suspected cases were enrolled and blood leukocyte DNA was extracted, and next-generation sequencing technology was applied for targeted exon sequencing. The current case described was the one patient confirmed. Results The patient had hyperuricemia and chronic renal insufficiency. There were HNF1B heterozygons mutation and EYA1 heterozygous mutation, both were conservative. Mutation Taster implicated that both were pathogenic and Polyphen2 score were 0.999, 0.473, respectively. Conclusions ADTKD-HNF1B disease is an ADTKD, characterized by hyperuricemia and chronic renal insufficiency, and in this case the prognosis of renal replacement therapy was rather good. Finding an accurate tool to select patients for HNF1B screening needs more research.

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 

分 类 号：R692[医药卫生—泌尿科学]