先天性肾脏和尿路发育异常(congenital anomalies of the kidneys and urinary tracts,CAKUT)是一组以泌尿系统发育缺陷为特征的结构畸形.其中,先天性肾脏发育不良在CAKUT的发生中多见.先天性肾脏发育不良的发病机制是多因素导致的,涉及母体、外界环境、遗传等.随着分子诊断技术的不断进步,遗传因素引起越来越多的重视.PBX1基因最初是由t(1;19)(q23;p13.3)染色体易位而形成E2A-PBX1融合基因,导致前B细胞淋巴细胞白血病而被发现的.PBX1基因突变可以造成先天性肾脏和尿路畸形综合征伴或不伴有听力丧失、耳朵异常和发育迟缓.该文对胚胎肾脏的发育过程、PBX1基因的结构功能异常可能造成肾脏发育不良的发病机制进行阐述,加深对基因在调控肾脏发育作用中的认识,总结PBX1基因突变的表型和基因型,推进对先天性肾脏发育不良的诊治和评估预后.
Progress of PBX1 gene abnormalities causing congenital renal anomaly
Congenital anomalies of the kidneys and urinary tracts(CAKUT)include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and the urinary tract.Congenital renal anomaly is common in CAKUT.The pathogenesis of congenital renal anomaly is considered to be multi-factor,involving maternal or external environment,and heredity.With the continuous progress of molecular diagnosis technology,genetic factors have attracted more and more attention.The PBX1 gene was initially discovered by the formation of an E2A-PBX1 fusion gene from a t(1;19)(q23;p13.3)chromosome translocation,which results in pre-B-cell lymphoblastic leukemia.PBX1 gene mutation can cause congenital renal and urogenital malformation syndromes with or without hearing loss,ear abnormalities,and developmental delay.This review deepens the understanding of the role of genes in regulating kidney development by describing the embryonic basis of kidney development,the structure and function of the PBX1 gene,and the pathogenesis of renal anomalies caused by mutations.Further,it summarizes the phenotype and genotype of the PBX1 gene,in order to promote the diagnosis,treatment,and determination progression of congenital renal anomaly.
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