儿童先天性肾发育异常的临床特征  

Clinical characteristics of congenital renal anomalies in children

作　　者：方香 高春林 夏正坤 陈皇宇 张沛 王忍 Fang Xiang;Gao Chunlin;Xia Zhengkun;Chen Huangyu;Zhang Pei;Wang Ren(Department of Pediatrics,Jinling Hospital,Medical School Of Nanjing University,Jiangsu,Nanjing 210002,China;Department of Information,Jinling Hospital,Medical School Of Nanjing University,Jiangsu,Nanjing 210002,China)

机构地区：[1]南京大学医学院附属金陵医院(东部战区总医院)儿科,江苏南京210002 [2]南京大学医学院附属金陵医院(东部战区总医院)信息科,江苏南京210002

出　　处：《发育医学电子杂志》2022年第6期447-452,F0002,共7页Journal of Developmental Medicine (Electronic Version)

基　　金：江苏省儿科医学创新团队项目(CXTDA2017022);江苏省自然科学基金(BK20190251)。

摘　　要：目的探讨先天性肾发育异常患儿的临床特征、分类、超声诊断、临床管理及病理特征。方法回顾性分析2010年1月至2015年12月于南京大学医学院附属金陵医院就诊且行肾脏输尿管超声检查诊断为肾发育异常的患儿,收集临床资料,包括性别、年龄、诊断、首发症状、合并症、超声首次及多次检查结果、肾小球滤过率(estimated glomerular filtrationrate,eGFR)、慢性肾脏病(chronic kidney diseases,CKD)分期、肾脏病理、基因检测等。结果470例患儿中,男性299例,女性171例(男女比例为1.75∶1)。年龄中位数11岁(0~18岁);0~4岁57例,5~9岁132例,10~14岁113例,15~18岁168例。肾囊肿(49.6%,233/470)是最常见的肾脏发育异常,囊肿可单发或多发,单发肾囊肿多无临床症状,多发肾囊肿48例(20.6%,48/233);其次肾脏偏小106例(22.6%,106/470),左肾偏小32例,右肾偏小52例,双肾偏小22例。肾缺如56例(11.9%,56/470),重复肾30例(6.4%,30/470),其他包括肾异位、海绵肾、马蹄肾、肾融合等45例(9.5%,45/470)。合并肾结石/积水44例(9.4%,44/470),合并输尿管畸形5例(1.1%,5/470)。97例住院患儿,随访6个月~10年。合并CKD 49例(50.5%,49/97),包含eGFR<30 ml/min者17例(17.5%,17/97)。患儿首发症状:CKD伴或不伴贫血28例,肾病综合征28例,血尿伴或不伴蛋白尿20例,孤立性蛋白尿17例。30例行肾穿刺活检,Alport综合征4例,局灶节段性肾小球硬化9例,系膜增生性病变8例,慢性间质性肾炎3例,IgA肾病4例,IgM肾病1例,肾小球巨大稀少症1例。结论先天性肾发育异常是导致儿童CKD乃至终末期肾病的常见原因,肾囊肿是最常见的肾发育异常,多为单发且无临床症状,需长期随访。肾脏超声是儿童首诊最常用的无创检查方法,肾脏病理与基因检测有助于明确诊断。Objective To investigate the clinical characteristics,classification,ultrasound diagnosis,clinical management and pathological characteristics.Method A retrospective analysis was performed on children with congenital renal anomalies who were diagnosed by renal and ureteral ultrasonography in Jinling Hospital from January 2010 to December 2015.The clinical data of the cases were collected,including gender,age,diagnosis,initial symptoms,combined symptoms,first and multiple ultrasound examination results,estimated glomerular filtrationrate(eGFR),chronic kidney diseases(CKD)staging,renal pathology,genetic testing,etc.Result A total of 470 cases were retrieved,299 male and 171 female(male:female=1.75∶1),aged median 11 years(0-18 years),0-4 years(57 cases),5-9 years(132 cases),10-14 years(113 cases),15-18 years(168 cases).Renal cysts(49.6%,233/470)were the most common renal dysplasia which could be single or multiple.Single renal cysts were mostly asymptomatic.Multiple renal cysts were found in 48 cases(20.6%,48/233).106 cases(22.6%,106/470)were small kidney,32 cases were left kidney,52 cases were right kidney,and 22 were bilateral kidney.56 cases(11.9%,56/470)with renal agenesis,30 cases with duplex kidney(6.4%,30/470),ectopic kidney,sponge kidney,horseshoe kidney,and renal fusion,accounted for 45 patients(9.5%,45/470),44 cases(44/470,9.4%)with nephrolithiasis/hydronephrosis,and 5 cases with ureteral malformation(1.1%,5/470).97 hospitalized children were followed up for 6 months to 10 years.There were 49 cases(50.5%,49/97)with CKD,including 17 cases(17.5%,17/97)with eGFR<30 ml/min.The primary symptoms of the children were:CKD with/without anemia in 28 cases,nephrotic syndrome in 28 cases,and hematuria with/without proteinuria in 20 cases,isolated proteinuria in 17 cases.Renal biopsy was performed in 30 cases,4 cases of Alport syndrome,9 cases of focal segmental glomerulosclerosis,8 cases of mesangial proliferative glomerulosclerosis,3 cases of chronic interstitial nephritis,4 cases of IgA,1 case of IgM,and 1 case of

关 键 词：儿童 先天性肾脏和尿路发育异常 肾发育不良 肾发育不全 肾囊肿 

分 类 号：R726.9[医药卫生—儿科]