先天性肾、尿路异常(CAKUT)

Manisha Sahay
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引用次数: 7

摘要

先天性肾脏和尿路异常是儿童终末期肾脏疾病的主要原因。这些都是由遗传和环境因素造成的。肾脏和泌尿道的胚胎学被导致CAKUT的基因突变所改变。这些异常可以单独发生,也可以作为肾脏和非肾脏表现的综合征的一部分。其表型可能从无症状的异常到肾脏发育不全不等。下呼吸道异常常伴有。许多疾病可以通过产前影像学诊断出来。适当的产前和产后管理可以防止ESKD的进展。遗传学在诊断中的作用目前尚不清楚,需要进一步评估。
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Congenital anomalies of kidney and urinary tract (CAKUT)

Congenital abnormalities of kidney and urinary tract are the leading cause of end-stage kidney disease in children. These result from genetic as well as environmental causes. The embryology of kidney and urinary tract is modified by genetic mutations leading to CAKUT. These anomalies may occur in isolation or as a part of syndrome with renal as well as non-renal manifestations. The phenotype may vary from asymptomatic abnormalities on one hand to renal agenesis on the other. Lower tract abnormalities are frequently associated. Many of the disorders may be diagnosed antenatally on imaging. Proper antenatal and post-natal management may prevent progression to ESKD. The role of genetics in diagnosis remains unclear at present and needs further evaluation.

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