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1
Genetics of Vesicoureteral Reflux.膀胱输尿管反流的遗传学
Curr Genomics. 2016 Feb;17(1):70-9. doi: 10.2174/1389202916666151014223507.
2
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Nat Rev Nephrol. 2015 Dec;11(12):720-31. doi: 10.1038/nrneph.2015.140. Epub 2015 Aug 18.
3
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.SLIT2-ROBO2信号通路基因SLIT2和SRGAP1的突变会增加患先天性肾和尿路异常的风险。
Hum Genet. 2015 Aug;134(8):905-16. doi: 10.1007/s00439-015-1570-5. Epub 2015 May 31.
4
Clinical utility gene card for: Cornelia de Lange syndrome.科妮莉亚·德·朗格综合征临床实用基因卡片
Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24.
5
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.12个已知的显性致病基因中的突变阐明了许多肾脏和尿路的先天性异常。
Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15.
6
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.全外显子组重测序揭示了患有先天性肾脏和尿路畸形（CAKUT）及VACTERL综合征个体中TRAP1基因的隐性突变。
Kidney Int. 2014 Jun;85(6):1310-7. doi: 10.1038/ki.2013.417. Epub 2013 Oct 23.
7
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.严重的产前肾异常与 HNF1B 或 PAX2 基因突变有关。
Clin J Am Soc Nephrol. 2013 Jul;8(7):1179-87. doi: 10.2215/CJN.10221012. Epub 2013 Mar 28.
8
Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.肾脏发育不全与 WNT4 变异体相关，该变异体导致异常的经典 WNT 信号通路。
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9
Six2 and Wnt regulate self-renewal and commitment of nephron progenitors through shared gene regulatory networks.Six2 和 Wnt 通过共享基因调控网络调节肾祖细胞的自我更新和定向分化。
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10
Long-term clinical consequences of urinary tract infections during childhood: a review.儿童时期尿路感染的长期临床后果：综述。
Acta Paediatr. 2012 Oct;101(10):1018-31. doi: 10.1111/j.1651-2227.2012.02785.x. Epub 2012 Aug 13.

遗传性膀胱输尿管反流及肾脏和泌尿道先天性异常。

Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.

机构信息

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

Department of Pediatric Nephrology, Severance Children's Hospital, Seoul, Korea.

出版信息

Investig Clin Urol. 2017 Jun;58(Suppl 1):S4-S13. doi: 10.4111/icu.2017.58.S1.S4. Epub 2017 Jun 7.

DOI:10.4111/icu.2017.58.S1.S4
PMID:28612055
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5468264/
Abstract

The definition of congenital anomalies of the kidney and urinary tract (CAKUT) is the disease of structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux (VUR). These anomalies can cause pediatric chronic kidney disease. However, the pathogenesis of CAKUT is not well understood, because identifying the genetic architecture of CAKUT is difficult due to the phenotypic heterogeneity and multifactorial genetic penetrance. We describe the current genetic basis and mechanisms of CAKUT including VUR via approaching the steps and signaling pathways of kidney developmental processes. We also focus on the newly developed strategies and challenges to fully address the role of the associated genes in the pathogenesis of the disease.

摘要

先天性肾和尿路畸形（CAKUT）的定义是肾脏和/或尿路结构畸形的疾病，其中包含了输尿管反流（VUR）。这些异常可导致小儿慢性肾脏病。然而，CAKUT 的发病机制尚不清楚，因为由于表型异质性和多因素遗传外显率，确定 CAKUT 的遗传结构具有一定难度。我们通过探讨肾脏发育过程的步骤和信号通路来描述 CAKUT（包括 VUR）的当前遗传基础和机制。我们还重点关注新开发的策略和挑战，以充分阐明相关基因在疾病发病机制中的作用。