Lower urinary tract development and disease.
Lower urinary tract development and disease.
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DOI：
10.1002/wsbm.1212
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发表时间：
2013-05
影响因子：
7.9
通讯作者：
Lu, Weining
中科院分区：
文献类型：
--
作者：
Rasouly, Hila Milo;Lu, Weining
先天性下尿路畸形（CALUT）是输尿管、膀胱和尿道的出生缺陷家族。CALUT包括输尿管异常，如肾盂输尿管连接部（UPJ）和输尿管膀胱连接部（UVJ）的先天性异常，以及膀胱和尿道的出生缺陷，如膀胱外翻尿道上裂综合征（BEEC）、梅干腹综合征（PBS）和后尿道瓣膜（PUV）。CALUT是最常见的出生缺陷之一，通常与产前肾积水、膀胱输尿管反流（VUR）、尿路梗阻、尿路感染（UTI）、慢性肾脏疾病和儿童肾衰竭有关。在这里，我们讨论了目前的遗传和分子知识，下尿路发育和遗传基础的CALUT在人类和小鼠模型。我们提供了一个发展过程的概述，导致输尿管，膀胱和尿道的形成，不同的基因和信号通路控制这些发展过程。人类遗传性疾病，影响输尿管，膀胱和尿道和相关的基因突变也提出。随着我们进入个性化医疗的后基因组时代，本文中的信息可能会为从下尿路出生缺陷患者中收集的遗传和基因组检测结果提供有用的解释。通过循证医学解释，临床医生可以为患者提供更有效的个性化治疗，并为他们的家庭提供遗传咨询。
Congenital Anomalies of the Lower Urinary Tract (CALUT) are a family of birth defects of the ureter, the bladder and the urethra. CALUT includes ureteral anomalies such as congenital abnormalities of the ureteropelvic junction (UPJ) and ureterovesical junction (UVJ), and birth defects of the bladder and the urethra such as bladder-exstrophy-epispadias complex (BEEC), prune belly syndrome (PBS), and posterior urethral valves (PUV). CALUT is one of the most common birth defects and is often associated with antenatal hydronephrosis, vesicoureteral reflux (VUR), urinary tract obstruction, urinary tract infections (UTI), chronic kidney disease and renal failure in children. Here, we discuss the current genetic and molecular knowledge about lower urinary tract development and genetic basis of CALUT in both human and mouse models. We provide an overview of the developmental processes leading to the formation of the ureter, bladder, and urethra, and different genes and signaling pathways controlling these developmental processes. Human genetic disorders that affect the ureter, bladder and urethra and associated gene mutations are also presented. As we are entering the post-genomic era of personalized medicine, information in this article may provide useful interpretation for the genetic and genomic test results collected from patients with lower urinary tract birth defects. With evidence-based interpretations, clinicians may provide more effective personalized therapies to patients and genetic counseling for their families.
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影响因子：
14.9
作者：
Blake JA;Bult CJ;Kadin JA;Richardson JE;Eppig JT;Mouse Genome Database Group
通讯作者：
Mouse Genome Database Group
影响因子：
2
作者：
Al Badr, Wisam;Al Bader, Suha;Innis, Jeffrey W.
通讯作者：
Innis, Jeffrey W.
影响因子：
8.8
作者：
Bachmann-Gagescu, Ruxandra;Mefford, Heather C.;Tsuchiya, Karen D.
通讯作者：
Tsuchiya, Karen D.
DOI：
10.1111/j.1464-410x.1992.tb15704.x
发表时间：
1992-08-01
期刊：
BRITISH JOURNAL OF UROLOGY
影响因子：
--
作者：
BORZI, PA;BEASLEY, SW;FOWLER, R
通讯作者：
FOWLER, R
影响因子：
4.5
作者：
Arena, Salvatore;Fazzari, Carmine;Di Benedetto, Vincenzo
通讯作者：
Di Benedetto, Vincenzo