持续性无症状镜下血尿患儿的临床及遗传学特征  

Clinical and genetic features of persistent asymptomatic microscopic hematuria in children

作　　者：骞佩 黄惠梅[1] 索磊[1] 安小敏 崔静怡 王策 Qian Pei;Huang Huimei;Suo Lei;An Xiaomin;Cui Jingyi;Wang Ce(Department of Nephrology,Xi′an Children′s Hospital,Xi′an 710003,China;Department of Emergency,Xi′an Children′s Hospital,Xi′an 710003,China)

机构地区：[1]西安市儿童医院肾脏科,西安710003 [2]西安市儿童医院急诊科,西安710003

出　　处：《中华儿科杂志》2025年第2期180-184,共5页Chinese Journal of Pediatrics

基　　金：陕西省重点研发项目(2022SF-263)。

摘　　要：目的探讨持续性无症状镜下血尿患儿的临床及遗传学特征。方法回顾性病例分析,收集2016年1月至2023年12月就诊于西安市儿童医院的135例持续性无症状镜下血尿患儿的一般情况、肾脏病理、基因检测结果等临床资料。根据一级亲属有无肾小球性血尿家族史将135例患儿分为阳性组和阴性组,比较两组在血尿缓解、蛋白尿及基因变异等方面的差异。组间比较采用两独立样本t检验、Wilcoxon秩和检验、χ^(2)检验、连续性校正χ^(2)检验或Fisher确切概率法。结果135例患儿中男48例、女87例,就诊年龄8.5(6.5,9.5)岁。73例(54.1%)患儿行肾穿刺活检,肾脏病理示41例(56.2%)为轻微病变,24例(32.9%)为薄基底膜病(TBMD),5例(6.8%)为Alport综合征的典型病理特征,3例(4.1%)为其他表现。阳性组52例,阴性组83例,阳性组蛋白尿和基因变异例数更多,而阴性组血尿缓解率更高(χ^(2)=5.00、5.27、8.52,均P<0.05)。80例患儿行全外显子基因检测,有18例(22.5%)为COL4A3~5基因的致病性或可能致病性基因变异,COL4A5基因变异最常见(11例)。135例患儿随访4.2(2.9,5.1)年,其中31例(22.9%)患儿在随访2.1(1.4,2.7)年镜下血尿完全缓解,截至2024年3月,7例(5.2%)出现不同程度的蛋白尿,3例(2.2%)出现蛋白尿的患儿进展至慢性肾功能不全。结论持续性无症状镜下血尿患儿常见的肾脏病理类型是轻微病变和TBMD。一级亲属有血尿家族史的镜下血尿患儿更易出现蛋白尿和基因变异,应考虑优先进行COL4A3~5基因的遗传筛查。Objective To explore clinical and genetic features of persistent asymptomatic microscopic hematuria in children.Methods A retrospective case analysis of 135 individuals admitted to Xi′an Children′s Hospital with persistent asymptomatic microscopic haematuria between January 2016 to December 2023 was conducted.The demographic characteristics,kidney pathology and gene results of 135 individuals were analyzed.One hundred and thirty-five individuals were divided into 2 groups(positive group and negative group)according to family history of glomerulogenic hematuria in first-degree relatives.The differences of hematuria remission,proteinuria and gene variation were compared between the 2 groups.Two independent sample t test,Wilcoxon rank sum test,Pearson Chi-square,Yates′corrected Chi-squared test or Fisher exact test were used for comparison between groups.Results All 135 children,with 48 males and 87 females,were 8.5(6.5,9.5)years old at first presentation.Kidney biopsy was performed in 73 cases(54.1%).Kidney pathology showed mild lesions in 41 cases(56.2%),thin basement membrane disease(TBMD)in 24 cases(32.9%),typical pathological features of Alport syndrome in 5 cases(6.8%),and other manifestations in 3 cases(4.1%).The positive group comprised 52 individuals,whereas the negative group consisted of 83 individuals.The positive group demonstrated a higher susceptibility in proteinuria and gene variation,while the negative group exhibited a greater rate of hematuria remission(χ^(2)=5.00,5.27,8.52,all P<0.05).Whole exome sequencing was performed in 80 individuals and 18 individuals(22.5%)had a pathogenic or likely pathogenic variant in COL4A3-5.COL4A5 was the most common gene afected,accounting for 11 cases.The 135 individuals were followed up for 4.2(2.9,5.1)years,of which 31 cases(22.9%)had complete hematuria remission at 2.1(1.4,2.7)years.Up to March 2024,there were also 7 individuals(5.2%)with varying degrees of proteinuria,and 3 individuals(2.2%)with proteinuria progressed to chronic kidney insufficiency.Con

关 键 词：血尿 儿童 肾活检 基因检测 

分 类 号：R726.9[医药卫生—儿科]