0-3岁婴幼儿肾脏疾病谱分析

Characteristics of kidney diseases in children aged 0-3 years old

目的探讨0~3岁婴幼儿肾脏疾病谱特点,评估肾活检在婴幼儿肾脏病诊断中的应用价值。方法该研究为回顾性分析研究。纳入2009年1月1日至2020年12月31日在上海市儿童医院接受肾活检且临床资料完整的0~3岁肾脏病患儿,收集其临床和病理资料,分析其肾脏疾病谱、临床表现、肾脏病理以及肾脏病理/基因型与临床表现的关系。结果该研究纳入117例0~3岁肾脏病患儿,其中男性77例,女性40例,年龄(2.20±0.51)岁(范围5~35个月)。接受肾活检的0~3岁婴幼儿占同期肾活检患儿(0~18岁)的6.5%(117/1790)。117例婴幼儿肾活检均获成功且无严重并发症发生。肾病综合征是婴幼儿肾脏病中最常见的临床类型(59.0%,69/117),其次为血尿和蛋白尿(29.1%,34/117)。原发性肾小球病(69.2%,81/117)为最主要的肾脏病;其次为遗传性肾脏病(29.1%,34/117),以奥尔波特综合征(Alport syndrome)为主(79.4%,27/34)。肾脏病理类型以微小病变为主(30.8%,36/117);其次分别为轻微病变(26.5%,31/117)、系膜增生性肾小球肾炎(15.4%,18/117)及局灶节段性肾小球硬化(10.3%,12/117)。40例临床表现为血尿伴/不伴蛋白尿的婴幼儿经肾组织Ⅳ型胶原免疫荧光检查,25例被确诊为奥尔波特综合征。28例接受基因检测的肾脏病患儿中23例存在基因突变,以COL4A5基因突变为主(60.9%,14/23),其中8例难治性肾病综合征患儿中4例检测出基因突变。临床表现为血尿的婴幼儿中,确诊为奥尔波特综合征的婴幼儿出现肉眼血尿的比例(59.3%,16/27)明显高于非奥尔波特综合征婴幼儿(20.0%,3/15,χ^(2)=5.999,P=0.014)。结论0~3岁婴幼儿肾脏病的主要类型是原发性肾小球病,其次是遗传性肾脏病,需重视有肉眼血尿的婴幼儿。肾活检在0~3岁婴幼儿中安全可靠,是诊断肾脏病的重要手段,肾活检联合目标基因检测能更好地了解婴幼儿肾脏病的病因并指导治疗。

Objective To investigate the characteristics of renal disease spectrum in children aged 0-3 years old,and to evaluate the clinical value of renal biopsy in children aged 0-3 years old with renal diseases.Methods It was a retrospective analysis study.The children aged 0-3 years old with kidney diseases receiving renal biopsy and having complete clinical data in Shanghai Children's Hospital from January 1,2009 to December 31,2020 were enrolled.The clinical and pathological data of the children were collected.The spectrum of renal diseases,clinical phenotype,renal pathology,and the relationship between renal pathology/genotype and clinical phenotype were analyzed.Results A total of 117 children aged 0-3 years old with kidney diseases were enrolled in the study,accounting for 6.5%(117/1790)of all children(0-18 years old)with renal biopsies during the same period.There were 77 males and 40 females.The age was(2.20±0.51)years old(5-35 months).All cases of renal biopsies in children aged 0-3 years old were successful without serious complications.Nephrotic syndrome was the common clinical phenotype of kidney diseases in children aged 0-3 years old(59.0%,69/117),followed by hematuria and proteinuria(29.1%,34/117).Primary glomerular disease(69.2%,81/117)was the major clinical type of renal diseases,followed by hereditary kidney diseases(29.1%,34/117),in which Alport syndrome was the main hereditary kidney disease(79.4%,27/34).Renal pathological types of children aged 0-3 years old were mainly distributed in minimal change disease(30.8%,36/117),followed by glomerular minor lesion(26.5%,31/117),mesangial proliferative glomerulonephritis(15.4%,18/117),and focal segmental glomerulosclerosis(10.3%,12/117).Among 40 children aged 0-3 years old with hematuria with/without proteinuria,25 cases were diagnosed as Alport syndrome by abnormal immunofluorescence of type IV collagen in renal tissues.Among the 28 children with kidney diseases who underwent genetic testing,23 cases had gene mutations,mainly in COL4A5 gene(60.9%,14/23),among which 4 children had gene mutations in 8 children with refractory nephrotic syndrome.Among the children aged 0-3 years old with clinical manifestations of hematuria,the proportion of gross hematuria in children diagnosed with Alport syndrome(59.3%,16/27)was significantly higher than that in children without Alport syndrome(20.0%,3/15,χ^(2)=5.999,P=0.014).Conclusions Primary glomerular disease is the principal type of kidney diseases in children aged 0-3 years old,followed by hereditary kidney disease.Attention should be paid to children aged 0-3 years old with gross hematuria.Renal biopsy in children aged 0-3 years old is safe and reliable,and it is an essential means for the diagnosis of renal diseases.Renal biopsy combined with gene testing can better understand the etiology of kidney diseases and guide treatment in children aged 0-3 years old.