高危新生儿先天性肾脏及尿路畸形超声筛查及结果分析

E-mail:zgqkyx@·2243··全科医生技能发展·高危新生儿先天性肾脏及尿路畸形超声筛查及结果分析李博1，马常建2，李文妍3，徐红4，殷玉芳5，王媛媛2，蒋华芳2，高健2*【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【中图分类号】　R 722.11　【文献标识码】　A　DOI：10.12114/j.issn.1007-9572.2018.00.420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．［］LI B，MA C J，LI W Y，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．Congenital Anomalies of the Kidney and the Urinary Tract in High-risk Neonates：an Ultrasound-screening Study　LIBo1，MA Changjian2，LI Wenyan3，XU Hong4，YIN Yufang5，WANG Yuanyuan2，JIANG Huafang2，GAO Jian2*1.Graduate Student of Pediatrics，Weifang Medical University，Weifang 261000，China2.Department of Pediatrics，Weifang Maternal and Child Health Hospital，Weifang 261000，China3.Department of Health Education，Weifang Maternal and Child Health Hospital，Weifang 261000，China4.Weifang Municipal Center for Disease Control and Prevention，Weifang 261000，China5.Department of Pediatric Healthcare，Anqiu Women and Children's Hospital，Anqiu 262100，China*Corresponding author：GAO Jian，Associate chief physician；E-mail：gaojian1650@LI Bo and MA Changjian are co-first authors【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 ofthe 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 fromJuly 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%.The1.261000山东省潍坊市，潍坊医学院儿科学研究生2.261000山东省潍坊市妇幼保健院儿科3.261000山东省潍坊市妇幼保健院健康教育科 4.261000山东省潍坊市疾病控制中心 5.262100山东省安丘市妇幼保健院儿童保健科*通信作者：高健，副主任医师；E-mail：gaojian1650@注：李博和马常建共同为第一作者·2244· E-mail:zgqkyx@儿童先天性肾脏及尿路畸形（CAKUT）是一种先天性结构畸形，较为常见，是存在先天性肾脏及尿路解剖学异常的一系列疾病，多由于胚胎时期发育异常导致，发病率较高［1］。

美国一项出生缺陷数据显示其发病率为0.3%~0.6%［2］，在儿童各系统先天性畸形中CAKUT所占比例较大，为20%~30%［3］。

CAKUT是导致儿童及青少年终末期肾病（ESRD）的首要原因［4］。

针对儿童CAKUT的研究对提高优生优育率有重要意义，故应制定相应的策略，早发现、早诊断、早治疗、及时干预。

对于病情较重的患儿，应通过CAKUT的早期筛查发现其隐匿症状从而延缓进程，保护肾功能，最终降低ESRD 发病率，推迟患儿肾脏透析时间，使患儿获得更有质量的生活。

因此对于CAKUT尽早做出正确诊断至关重要。

本研究通过对潍坊地区的高危新生儿泌尿系统畸形进行超声筛查，了解本地区高危新生儿CAKUT的发生情况、预后等，为下一步临床诊疗、干预及预后提供帮助。

1　资料与方法1.1　研究对象　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超声筛查，对筛查结果进行总结分析。

1.2　纳入标准　孕妇妊娠晚期（妊娠28周后）产前检查发现胎儿存在先天性泌尿系统异常者：（1）肾盂扩张或肾积水；（2）其他泌尿系统畸形，如肾发育不全、肾发育不良、孤立肾、重复肾、多囊肾、异位肾及输尿管、膀胱、尿路畸形及肾脏内占位（不包括钙化、肾结石）病变者等。

符合以上条件之一者纳入研究。

1.3　排除标准　除外泌尿系统的结石、钙化及肿瘤等占位性病变者。

1.4　诊断标准1.4.1　高危新生儿诊断标准　参考第8版《诸福堂实用儿科学》［5］有关高危新生儿诊断标准，存在下列各项高危因素的情况之一者为高危新生儿：（1）母亲疾病史：母亲存在不良病史，如吸烟、酗酒或吸毒史，慢性心脏病、糖尿病、慢性肾脏病史，妊娠早期（妊娠3个月内）有药物使用史或感染史；性传播疾病史、死产史、死胎史等；母亲为Rh（-）血型。

（2）不良母孕史：妊娠期间发生妊娠期高血压、子痫、先兆子痫、阴道流血、贫血、母年龄>35岁或<16岁、前置胎盘、胎盘发育不良、胎盘早剥、胎儿宫内发育迟缓、胎儿窘迫、脐带过短或脐带扭曲成麻花状、胎膜早破、羊水过少等。

（3）分娩史：难产、急产、产钳助产、剖宫产（具有明确手术指征者）、产时产伤、过期产、产程延长等。

（4）新生儿：窒息、早产儿（<37周）、多胎儿、宫内感染（TORCH）、出生体质量<2 500 g的低出生体质量儿、出生体质量>4 000 g的巨大儿、先天性畸形（包括先天性心脏病，脐膨出，骨骼发育异常，唇、腭裂及21-三体综合征等）。

（5）新生儿期严重疾病：颅内感染、缺血缺氧性脑病（HIE）、颅内出血或颅内血肿、贫血〔血细胞比容（HCT）<0.35〕、病理性黄疸等。

1.4.2　肾积水B超诊断标准　参考B超标准及Grignon分级法［6］，将肾盂扩张分为4度，正常：肾盂扩张<5.0 mm；Ⅰ度：肾盂扩张5.0~9.9 mm；Ⅱ度：肾盂扩张10.0~15.0 mm；Ⅲ度：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·2245· E-mail:zgqkyx@ 肾盂扩张>15.0 mm，Ⅰ度、Ⅱ度及Ⅲ度诊断为肾积水。