Hepatocyte nuclear factor 1B(HNF1B)is encoded by 17q12 chromatin and involved in the morphogenesis and development of various organs,including kidney,liver,pancrea and so on.During the development of kidney,HNF1B plays a key role in the development of renal tubules.While the pancrea morhogensis also depends on normal function of HNF1B.The Coding gene of HNF1B is susceptible to various genetic mutations,which would lead to the dysfunction of tran-scriptional factor HNF1B.The HNF1B dysfunction can induce kinds of diseases,including diabete mellitus,renal failure and kinds of malignant cancers.Besides,the diseases,induced by HNF1B dysfunction,is characterized by multi-symptoms. Therefore,it is hard to correctly diagnosize such disease and recognize the overall disease spectrum.Aiming to improve the understanding of such transcriptional factor,we review associated literatures.%肝细胞核因子1B(HNF1B)转录因子由17q12染色质编码,其涉及包括肝、胰、肾等多个脏器的生长与发育.在肾脏的发育过程中,HNF1B主要调控肾小管的生长与发育.而其在胰腺发育的各个阶段均发挥不可或缺的作用,包括胰腺内外分泌细胞及导管发育.HNF1B转录因子编码基因易发生各种类型突变,并可造成HNF1B转录因子功能异常,从而引起多种疾病的发生与进展,包括糖尿病、肾功能不全以及多种恶性肿瘤.同时,HNF1B异常所致疾病症状广泛并同时累及多个系统,因此诊断困难且易发生误诊.
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