高危新生儿先天性肾脏及尿路畸形超声筛查及结果分析

doi:10.12114/j.issn.1007-9572.2018.00.420

摘要/Abstract

摘要： 背景　儿童先天性肾脏及尿路畸形（CAKUT）是一种先天性结构畸形，是导致儿童及青少年终末期肾病的首要原因。目的　本研究通过对高危新生儿进行CAKUT超声筛查，分析高危新生儿CAKUT的发生情况，探讨开展CAKUT超声筛查的适宜对象及模式。方法　选取潍坊市妇幼保健院、安丘市妇幼保健院2012年7月—2014年7月出生的父母同意接受超声筛查的4 883例高危新生儿进行CAKUT超声检查，对筛查结果进行分析，将筛查出的CAKUT进行分类并定期随访。结果　两家医院共筛查出242例CAKUT患儿，CAKUT检出率为4.96%。安丘市妇幼保健院CAKUT检出率（5.43%，225/4 146）高于潍坊市妇幼保健院（2.31%，17/737）（χ2=12.934，P<0.05）。筛查出168例CAKUT男婴，74例CAKUT女婴，男女比例为2.27∶1，男婴CAKUT检出率（6.52%，168/2 575）高于女婴（3.21%，74/2 308）（χ2=28.447，P<0.05）。共筛查出肾积水患儿230例，占CAKUT患儿的95.04%，包括Ⅰ度205例、Ⅱ度23例、Ⅲ度2例；其他CAKUT类型患儿12例，包括重复肾3例、肾囊性病变3例、单侧肾缺如2例、异位肾2例、肾发育不全2例。随访1年，Ⅰ、Ⅱ度肾积水患儿肾积水自行消失，Ⅲ度肾积水患儿给予保守治疗后肾盂扩张消失。其他CAKUT类型患儿均转入潍坊市妇幼保健院儿科肾脏门诊进一步随访，其中2例失访，余随访发现患儿肾功能均正常。结论　潍坊地区高危新生儿的泌尿系统畸形超声筛查中CAKUT检出率为4.96%，较国内外筛查结果偏高。且肾积水最为常见，预后良好。高危儿出生后有必要进行CAKUT超声筛查，对严重肾积水及其他CAKUT类型患儿及早转诊，完善三级转诊机制，有助于尽早采取有效的预防干预措施。

关键词: 新生儿学, 先天畸形, 泌尿生殖系统畸形, 肾盂积水, 超声检查

Abstract: Background　Congenital anomalies of the kidney and the urinary tract（CAKUT） is a structural congenital malformation diagnosed in newborns，which is the primary cause of end-stage renal disease in children and adolescents.Objective　 To analyze the incidence of CAKUT in high-risk neonates based on an ultrasound-screening study of the CAKUT in this population，to explore the appropriate subjects and patterns for CAKUT screening.Methods　4 883 high-risk neonates who were born in Weifang Maternal and Child Health Hospital and Anqiu Women and Children's Hospital from July 2012 to July 2014 were selected for ultrasound screening of urinary malformations after getting permission from their parents.The results of screening were analyzed and summarized.The identified CAKUT was classified.And the children with congenital hydronephrosis were followed up regularly.Results　A total of 242 cases of CAKUT were detected，accounting for 4.96%.The detection rate of CAKUT in the neonates delivered in Anqiu Women and Children's Hospital was higher than that of those delivered in Weifang Maternal and Child Health Hospital〔5.43%（225/4 146） vs 2.31%（17/737）；χ2=12.934，P<0.05〕.The male to female ratio of neonates with CAKUT was 2.27∶1.The detection rate of CAKUT in male neonates was higher than that of female neonates〔6.52%（168/2 575） vs 3.21%（74/2 308）；χ2=28.447，P<0.05〕.A total of 230 children with hydronephrosis were screened out，accounting for 95.04% of children with CAKUT，and 205 cases with grade Ⅰ，23 with grade Ⅱ，and 2 with grade Ⅲother types of CAKUT were found in 12 cases（3 cases of renal duplication anomaly，3 cases of cystic renal lesions，2 cases of absence of the kidney，2 cases of ectopic kidney and 2 cases of renal dysplasia）．One-year follow-up showed that the pyelonephrosis in those cases of gradeⅠ andⅡ disappeared spontaneously，and the pyelonephrosis of gradeⅢ cases disappeared after receiving conservative treatment.The 12 cases with other 4 types of CAKUT were transferred to Pediatric Renal Clinic，Weifang Maternal and Child Health Hospital for further follow-up.Two of them were lost to follow up，other 10 cases were found with normal renal functions，urinalysis results and growth and development.Conclusion　The prevalence of CAKUT in high-risk neonates is 4.96% in Weifang，which is higher than that of most domestic and foreign studies.Hydronephrosis is the most common type of CAKUT，and the prognosis is good.It is necessary for high-risk infants to undergo ultrasound screening of urinary malformations after birth.For those with severe hydronephrosis or other types of CAKUT，early referral is suggested.Moreover，improved three-level referral system helps to deliver effective preventive interventions as soon as possible.

Key words: Neonatology, Congenital abnormalities, Urogenital abnormalities, Hydronephrosis, Ultrasonography

李博,马常建,李文妍,等. 高危新生儿先天性肾脏及尿路畸形超声筛查及结果分析[J]. 中国全科医学, 2019, 22(18): 2243-2247. DOI: 10.12114/j.issn.1007-9572.2018.00.420.
LI Bo,MA Changjian,LI Wenyan, et al. Congenital Anomalies of the Kidney and the Urinary Tract in High-risk Neonates：an Ultrasound-screening Study　[J]. Chinese General Practice, 2019, 22(18): 2243-2247. DOI: 10.12114/j.issn.1007-9572.2018.00.420.

参考文献

［1］张铁娟，翟桂荣，陈焰.胎儿泌尿系畸形的超声诊断及预后［J］．中华围产医学杂志，2006，9（3）：201．DOI：10.3760/cma.j.issn.1007-9408.2006.03.017.
ZHANG T J，ZHAI G R，CHEN Y.Ultrasound diagnosis and prognosis of fetal urinary malformation［J］．Chin J Perinat Med，2006，9（3）：201．DOI：10.3760/cma.j.issn.1007-9408.2006.03.017.
［2］TOKA H R，TOKA O，HARIRI A，et al．Congenital anomalies of kidney and urinary tract［J］．Semin Nephrol，2010，30（4）：374-386．DOI：10.1016/j.semnephrol.2010.06.004.
［3］STOLL C，CLEMENTI M.Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe［J］．Ultrasound Obstet Gyneco，2003，21（6）：543-551．DOI：10.1002/uog.125.
［4］汤小山，徐虹，沈茜.终末期肾病患儿113例的病因构成分析［J］．上海医学，2014，37（5）：382-385.
TANG X S，XU H，SHEN Q.The spectrum of causes for end-stage renal disease in 113 pediatric patients［J］．Shanghai Med J，2014，37（5）：382-385.
［5］江载芳，申昆玲，沈颖.诸福堂实用儿科学［M］．8版．北京：人民卫生出版社，2015：423.
［6］GRIGNON A，FILION R，FILIATRAULT D，et al．Urinary tract dilatation in utero：classification and clinical applications［J］．Radiology，1986，160（3）：645-647．DOI：10.1148/radiology.160.3.3526402.
［7］杨松静.6113例围产儿出生缺陷监测结果分析［J］．中国妇幼保健，2008，23（8）：1039-1040．DOI：10.3969/j.issn.1001-4411.2008.08.007.
YANG S J.Analysis of monitoring results of birth defects in 6113 cases of perinatal infants［J］．Maternal and Child Health Care of China，2008，23（8）：1039-1040．DOI：10.3969/j.issn.1001-4411.2008.08.007.
［8］傅煜，李岭.泌尿生殖系统的发育过程及其先天畸形的相关基因［J］．中国优生与遗传杂志，2008，16（5）：1-3．DOI：10.13404/j.cnki.cjbhh.2008.05.016.
FU Y，LI L.Developmental processes of genitourinary system and genes associated with congenital malformation in the system［J］．Chinese Journal of Birth Health & Heredity，2008，16（5）：1-3．DOI：10.13404/j.cnki.cjbhh.2008.05.016.
［9］张斌，王辉，孙宁．超声筛查26989名儿童中先天性肾脏和尿路畸形的临床分析［J］．中华儿科杂志，2011，49（7）：534-538．DOI：10.3760/cma.j.issn.0578-1310.2011.07.012.
ZHANG B，WANG H，SUN N.Incidence，diagnosis and treatment of children's congenital abnormalities of the kidney and urinary tract detected in ultrasound screening［J］．Chin J Pediatr，2011，49（7）：534-538．DOI：10.3760/cma.j.issn.0578-1310.2011.07.012.
［10］张鸾.2011—2012年闵行区高危儿泌尿系统发育异常筛查结果分析［J］．中国儿童保健杂志，2014，22（7）：768-770．DOI：10.11852/zgetbjzz2014-22-07-33.
ZHANG Y.Analysis of screening results of urinary dysplasia in high-risk children in Minhang District from 2011 to 2012［J］．Chinese Jorunal of Child Health Care，2014，22（7）：768-770．DOI：10.11852/zgetbjzz2014-22-07-33.
［11］孙琦.宁波部分地区高危新生儿泌尿系统超声筛查及随访结果分析［D］．杭州：浙江中医药大学，2016.
［12］RICCABONA M.Assessment and management of newborn hydronephrosis［J］．World J Urol，2004，22（2）：73-78．DOI：10.1007/s00345-004-0450-0.
［13］阳海平，罗娟，李翠萃，等．14256 名无症状小儿泌尿系统超声筛查分析［J］．重庆医科大学学报，2010，35（6）：926-929．DOI：10.13406/j.cnki.cyxb.2010.06.035.
YANG H P，LUO J，LI C C，et al．Ultrasound screening of urinary system in 14256 asymptomatic children［J］．Journal of Chongqing Medical University，2010，35（6）：926-929．DOI：10.13406/j.cnki.cyxb.2010.06.035.
［14］ICHIKAWA I，KUWAYAMA F，POPE J T，et al．Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT［J］．Kidney Int，2002，61（3）：889-898．DOI：10.1046/j.1523-1755.2002.00188.x.
［15］韦莎.2233 例高危新生儿泌尿系统超声筛查结果分析［D］．南宁：广西医科大学，2013.
［16］浦征宇，吴国兴，姚志广，等．胎儿肾积水的产前诊断及产后干预探讨［J］．临床小儿外科杂志，2015，14（2）：136-137．DOI：10.3969/j.issn.1671-6353.2015.02.016.
PU Z Y，WU G X，YAO Z G，et al．Causes of fetal hydronephrosls and prognosis analysis［J］．Journal of Clinical Pediatric Surgery，2015，14（2）：136-137．DOI：10.3969/j.issn.1671-6353.2015.02.016.
［17］展新风.应用超声评分法，生化指标及MRI对胎儿肾积水等泌尿系统疾病的研究［D］．济南：山东大学，2010.
［18］朱小江，董隽，郭云飞，等．肾盂输尿管连接部梗阻合并输尿管膀胱连接部梗阻的诊断与治疗［J］．中华实用儿科临床杂志，2017，32（23）：1797-1799．DOI：10.3760/cma.j.issn.2095-428X.2017.23.011.
ZHU X J，DONG J，GUO Y F，et al．Diagnosis and treatment of coexisting ureteropelvic junction obstruction and ureterovesical junction obstruction［J］．Chin J Appl Clin Pediatr，2017，32（23）：1797-1799．DOI：10.3760/cma.j.issn.2095-428X.2017.23.011.
［19］HOSNY I A，ELGHAWABI H S.Ultrafast MRI of the fetus：an increasingly important tool in prenatal diagnosis of congenital anomalies［J］．Magn Reson Imaging，2010，28（10）：1431-1439．DOI：10.1016/j.mri.2010.06.024.
［20］汪亚平，谢华，余玲，等．急性症状型儿童肾盂输尿管连接处梗阻的临床特点［J］．中华泌尿外科杂志，2017，38（11）：862-865．DOI：10.3760/cma.j.issn.1000-6702.2017.11.014.
WANG Y P，XIE H，YU L，et al．The clinical charactaristics analysis of the acute symptomatic ureteropelvic junction obstruction in children［J］．Chin J Urol，2017，38（11）：862-865．DOI：10.3760/cma.j.issn.1000-6702.2017.11.014.
［21］YAVASCAN O，AKSU N，ANIL M，et al．Postnatal assessment of growth，nutrition，and urinary tract infection of infants with antenatally detected hydronephrosiss［J］．Int Urol Nephrol，2010，4（3）：781-788．DOI：10.1007/s11255-099-9530-4.
［22］GHANMI S，BEN HAMOUDA H，KRICHENE I，et al．Management and follow-up of antenatally diagnosed primary megaureters ［J］．Prog Urol，2011，21（7）：486-491．DOI：10.1016/j.purol.2011.02.011.
［23］HADLOCK F P，DETER R L，CARPENTER R，et al．Sonography of fetal urinary tract anomalies［J］．AJR Am J Roentgenol，1981，137（2）：261-267．DOI：10.2214/ajr.137.2.261.
［24］MASAHIRO H.Medical management of congenital anomalies of the kidney and urinary tract［J］．Pediatr Int，2003，45（5）：624-633．DOI：10.1046/j.1442-200X.2003.t01-1-01781.x.
［25］龚一女，张莺，徐虹.先天性肾脏和尿路畸形超声筛查三级转诊体系的高危儿肾盂扩张筛查和随访研究［J］．中国循证儿科杂志，2013，8（5）：326-330．DOI：10.3969/j.issn.1673-5501.2013.05.002.
GONG Y N，ZHANG Y，XU H.The significance of establishing a general management of urinary ultrasound screening，referral and follow-up for congenital anomalies of the kidney and urinary tract in high-risk renal pelvis dilation infants［J］．Chin J Evld Based Pediatr，2013，8（5）：326-330．DOI：10.3969/j.issn.1673-5501.2013.05.002.

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