儿童肾小管酸中毒的临床特点及诊治  

Clinical characteristics and diagnosis of renal tubular acidosis in children

作　　者：彭晓艳 陈朝英[1] 涂娟[1] 高洁 李华荣[1] Peng Xiaoyan;Chen Chaoying;Tu Juan;Gao Jie;Li Huarong(Department of Nephrology,Children’s Hospital Affiliated to Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院肾脏内科,北京100020

出　　处：《中国医刊》2025年第1期74-78,共5页Chinese Journal of Medicine

摘　　要：目的了解儿童肾小管酸中毒(RTA)的临床表现和诊治情况,比较原发性与继发性疾病的差异。方法回顾性分析2015年6月至2023年4月于首都儿科研究所附属儿童医院肾脏内科住院治疗且临床诊断为RTA的病例。收集患儿基本信息、临床资料、实验室检查、基因检测结果、治疗方案及肾功能进展变化情况等,根据发病原因分为原发性RTA组和继发性RTA组,比较两组患儿的临床特点。结果共纳入符合要求的RTA患儿31例,以男性(67.74%)、原发性(67.74%)、Ⅰ型(70.97%)RTA为主。原发性RTA组共21例,继发性RTA组共10例。两组患儿性别、就诊时年龄、起病年龄、起病年龄<1岁比例、阳性家族史比例、首次就诊的主诉情况比较,差异均无统计学意义(P>0.05),而两组的分型构成比较差异有统计学意义(P<0.05)。原发性RTA与遗传缺陷有关,继发性RTA的病因主要是泌尿系统结构异常。RTA患儿临床最常见的首诊原因是生长发育迟缓,原发性RTA组身材矮小的患儿比例为47.62%,而继发性RTA组身材矮小比例则高达70.00%。肾小管早期损伤标志物方面,继发性RTA组患儿尿α1微球蛋白水平高于原发性RTA组,差异有统计学意义(P<0.05)。肾功能方面,12例患儿在就诊时已有肾功能异常,继发性RTA组患儿肾功能异常发生率高于原发性RTA组,差异有统计学意义(P<0.05)。原发性RTA组患儿肾钙质沉着发生率显著高于继发性RTA组,差异有统计学意义(P<0.05)。两组患儿的肾结石及高钙尿症发生率、血清电解质(钠、氯、钾、钙、磷)水平、血气最低pH、血浆HCO3-及血阴离子间隙、尿阴离子间隙、尿β2微球蛋白、尿视黄醇结合蛋白、N-乙酰β-D氨基葡萄糖苷酶定量水平比较差异无统计学意义(P>0.05)。治疗方面,继发性RTA主要采用针对病因治疗,原发性RTA则以补碱补钾等为主,合并低磷、低钙、骨骼畸形、佝偻病者同期补充磷酸盐合剂、钙剂、Objective To understand the clinical manifestations and diagnosis and treatment of pediatric renal tubular acidosis(RTA),and to compare the differences between primary and secondary diseases.Method A retrospective study was performed on the cases of clinically diagnosed RTA patients hospitalized in our department from June 2015 to April 2023.The general information,clinical data,laboratory and genetic testing results,treatment regimens and renal function progression were collected,the children were divided into primary RTA group and secondary RTA group according to the causes,and the clinical characteristics of the two groups were compared.Result A total of 31 children with RTA meeting the requirements were included,mainly male(67.74%),primary(67.74%)and type I RTA(70.97%).There were 21 cases in the primary RTA group and 10 cases in the secondary RTA group.There were no statistically significant differences between the two groups in gender,age at diagnosis,age of onset,proportion of onset age<1 year,proportion of positive family history,and thefirst complaint of the two groups(P>0.05),while there were statistically significant differences in the classification composition between the two groups(P<0.05).Primary RTA is related to genetic defects,and secondary RTA is mainly caused by structural abnormalities of urinary system.Growth retardation was the most common cause offirst diagnosis in children with RTA.In the primary RTA group,the proportion of children with short stature was 47.62%,and the proportion in the secondary RTA group was as high as 70.00%.In terms of markers of renal tubule injury,urinaryα1 microglobulin level in secondary RTA group was higher than that in primary RTA group,and the difference was statistically significant(P<0.05).In terms of renal function,12 patients had abnormal renal function at the time of treatment,and the incidence of abnormal renal function in the secondary RTA group was higher than that in the primary RTA group,with statistical significance(P<0.05).The incidence of r

关 键 词：儿童 原发性肾小管酸中毒 继发性肾小管酸中毒 

分 类 号：R725[医药卫生—儿科]