内科理论与实践2017，Vol.12Issue(4)：274-278,5.DOI:10.16138/j.1673-6087.2017.04.009
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
摘要
Abstract
Objective To study the clinical symptoms,pathologic characteristics and research progress of an autosomal dominant tubulointerstitial 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 heterozygous 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Key words
Autosomal dominant tubulointerstitial kidney disease/Hepatocyte nuclear factor 1B/Hyperuricemia分类
医药卫生引用本文复制引用
乔盼盼,陈楠,吴杭迪,徐倩,任红,杨俪,郭以晴,谢静远,俞夏莲,王朝晖..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[J].内科理论与实践,2017,12(4):274-278,5.基金项目
国家重点基础研究发展计划(973计划)(项目编号:2012CB517604) （973计划）
国家自然科学基金项目(项目编号:81170634) （项目编号:81170634）
