Congenital anomalies of the kidney and urinary tract: defining risk factors of disease progression and determinants of outcomes.
Congenital anomalies of the kidney and urinary tract: defining risk factors of disease progression and determinants of outcomes.
复制标题
肾脏和泌尿道先天性异常：确定疾病进展的危险因素和结果的决定因素。
DOI：
10.1007/s00467-023-05899-w
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Matsell,DouglasG
中科院分区：
文献类型：
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作者：
Walawender,Laura;Becknell,Brian;Matsell,DouglasG
先天性肾和尿路异常（先天性肾和尿路异常）是胎儿期正常肾脏和尿路发育中断的结果，是全世界儿童肾衰竭的最常见原因。CAKUT的产前决定因素多种多样，包括负责正常肾形成的基因突变、母体和胎儿环境的改变以及正常发育的尿路梗阻。由此产生的临床表型是复杂的，取决于损伤的时间，潜在基因突变的外显率，以及与正常肾脏发育顺序相关的阻塞的严重程度和时间。因此，出生时患有CAKUT的儿童的预后范围很广。在这篇综述中，我们探讨了最常见的ckut形式和那些最可能发展为长期并发症的相关肾脏畸形。我们讨论了不同形式的CAKUT的相关结果，以及已知的CAKUT谱系的临床特征，这些特征是长期肾损伤和疾病进展的危险因素。
Congenital anomalies of the kidney and urinary tract (CAKUT) result from disruptions in normal kidney and urinary tract development during fetal life and collectively represent the most common cause of kidney failure in children worldwide. The antenatal determinants of CAKUT are diverse and include mutations in genes responsible for normal nephrogenesis, alterations in maternal and fetal environments, and obstruction within the normal developing urinary tract. The resultant clinical phenotypes are complex and depend on the timing of the insult, the penetrance of underlying gene mutations, and the severity and timing of obstruction related to the sequence of normal kidney development. Consequently, there is a broad spectrum of outcomes for children born with CAKUT. In this review, we explore the most common forms of CAKUT and those most likely to develop long-term complications of their associated kidney malformations. We discuss the relevant outcomes for the different forms of CAKUT and what is known about clinical characteristics across the CAKUT spectrum that are risk factors of long-term kidney injury and disease progression.