20例儿童原发性远端肾小管酸中毒的临床表型与基因分析  

Clinical phenotype of 20 children with primary distal renal tubular acidosis and their gene analysis

作　　者：刘文彦 李宇红[2] 徐海霞[3] 邵晓珊 LIU Wenyan;LI Yuhong;XU Haixia;SHAO Xiaoshan(the First Clinical College of Zunyi Medical University,Zunyi,Guizhou,563006;Department of Pediatric Nephrology,Guiyang Maternity and Child Health Care Hospital of Guizhou Province,Guiyang,Guizhou,550000;Department of Pediatric Rheumatology and Immunology,Guiyang Maternity and Child Health Care Hospital of Guizhou Province,Guiyang,Guizhou,550000)

机构地区：[1]遵义医科大学第一临床学院,贵州遵义563006 [2]贵州省贵阳市妇幼保健院儿童肾脏科,贵州贵阳550000 [3]贵州省贵阳市妇幼保健院儿童风湿免疫科,贵州贵阳550000

出　　处：《实用临床医药杂志》2023年第6期123-127,共5页Journal of Clinical Medicine in Practice

基　　金：贵州省卫生健康委科学技术基金项目(gzwjkj2020-1-139)。

摘　　要：目的探讨儿童原发性远端肾小管酸中毒(dRTA)的临床表型及基因学特征。方法回顾性收集并分析20例原发性dRTA患儿的临床资料及基因检测结果。结果20例患儿首发临床表现主要为生长发育迟缓、发热、呕吐、乏力、多饮多尿、神软、腹泻、咳嗽。20例患儿均存在肾髓质钙质沉积,2例伴有肾脏囊性病,7例表现为髓质海绵肾。患儿均予枸橼酸盐合剂治疗。经治疗后,所有患儿代谢紊乱均得到纠正,12例患儿行基因组全外显子测序,11例检测出有意义的基因突变,均来自于父母,且均为纯合突变;余下1例未能明确基因突变类型。SLC4A1基因突变组患儿起病年龄晚于ATP6V0A4和ATP6V1B1基因组突变患儿,差异有统计学意义(P=0.019);2组在血pH、血钾、血碳酸氢根浓度、血氯实验室检查等方面比较,差异无统计学意义(P>0.05)。结论早诊断、早治疗、规律随访和及时调整用药是治疗原发性dRTA的关键。基因检测有助于明确诊断和遗传咨询原发性dRTA。Objective To investigate the clinical phenotype and genetic characteristics of primary distal renal tubular acidosis(dRTA)in children.Methods Clinical data and genetic test results of 20 children with primary dRTA were retrospectively collected and analyzed.Results The primary clinical manifestations of the 20 cases were growth retardation,fever,vomiting,fatigue,polydipsia and polyuria,numbness,diarrhea and cough.All the 20 patients had renal medullary calcium deposition,the 2 patients had renal cystic disease,and 7 patients had medullary spongy kidney.All children were treated with citrate mixture.After treatment,the metabolic disorders were corrected in all the children.Whole exon sequencing was performed in 12 cases,and significant gene mutations were detected in 11 cases,and they were homozygous mutations from the parents;the mutation type of the remaining 1 case was not identified.The onset age of SLC4A1 mutation was significantly later than that of ATP6V0A4 and ATP6V1B1(P=0.019);there were no significant differences in blood pH,blood potassium,blood bicarbonate concentration and blood chlorine laboratory test between two groups(P>0.05).Conclusion Early diagnosis,early treatment,regular follow-up and timely adjustment of medication are the key to the treatment of primary dRTA.Genetic testing helps to clarify the diagnosis and genetic counseling of primary dRTA.

关 键 词：遗传性肾脏病 肾小管酸中毒 临床特点 基因突变 

分 类 号：R692[医药卫生—泌尿科学] Q81[医药卫生—外科学]