{"title":"先天性肾、尿路异常(CAKUT)","authors":"Manisha Sahay","doi":"10.1016/j.cqn.2013.11.005","DOIUrl":null,"url":null,"abstract":"<div><p>Congenital abnormalities of kidney and urinary tract<span><span> 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 </span>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.</span></p></div>","PeriodicalId":100275,"journal":{"name":"Clinical Queries: Nephrology","volume":"2 4","pages":"Pages 156-165"},"PeriodicalIF":0.0000,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cqn.2013.11.005","citationCount":"7","resultStr":"{\"title\":\"Congenital anomalies of kidney and urinary tract (CAKUT)\",\"authors\":\"Manisha Sahay\",\"doi\":\"10.1016/j.cqn.2013.11.005\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Congenital abnormalities of kidney and urinary tract<span><span> 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 </span>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.</span></p></div>\",\"PeriodicalId\":100275,\"journal\":{\"name\":\"Clinical Queries: Nephrology\",\"volume\":\"2 4\",\"pages\":\"Pages 156-165\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2013-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.cqn.2013.11.005\",\"citationCount\":\"7\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Queries: Nephrology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S221194771300040X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Queries: Nephrology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S221194771300040X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.