SLC4A1突变致原发性远端肾小管酸中毒遗传学与临床分析  

Genetic and clinical analysis of primary distal renal tubular acidosis by SLC4A1 gene mutation

作　　者：俞蕾 李国民 何璐 YU Lei;LI Guomin;HE Lu(Department of Nephrology,First People’s Hospital of Urumqi,Children’s Hospital of Urumqi,Urumqi,Xinjiang 830002,China;Department of Nephrology and Rheumatology,Children’s Hospital of Jiangnan University,Wuxi,Jiangsu 214122,China)

机构地区：[1]乌鲁木齐市第一人民医院(乌鲁木齐儿童医院)肾脏科,新疆乌鲁木齐830002 [2]江南大学附属儿童医院肾脏风湿科,江苏无锡214122

出　　处：《中国优生与遗传杂志》2024年第10期2150-2155,共6页Chinese Journal of Birth Health & Heredity

基　　金：新疆维吾尔自治区科学技术厅“天山英才”培养计划(2022TSYCJC0058)。

摘　　要：目的探讨SLC4A1基因突变相关的儿童原发性肾小管酸中毒的临床表型和基因学特征。方法回顾性分析一例原发性远端肾小管酸中毒合并髓质海绵肾的临床资料,以及家系全外显子组检测(Trio-WES)结果。结果患儿为11月男孩,临床特征主要为低钾血症、代谢性酸中毒、碱性尿、尿比重(1.010),伴有髓质海绵肾,无听力损害、肾功能损害和肾性骨病。Trio-WES检测出SLC4A1基因的c.1766G>A(p.R589H)为新发错义突变,此变异为致病性变异,符合常染色体显性遗传,明确诊断远端肾小管酸中毒,并总结与远端肾小管酸中毒相关的SLC4A1基因突变和临床特征。结论儿童原发性远端肾小管酸中毒通过全外显子基因有助于明确基因表型和临床诊断,同时进行文献复习为后续相关疾病的诊断及遗传咨询提供理论依据。Objective To explore the clinical features and genotypes of primary diatal renal tubular acidosis caused by SLC4A1 gene mutation.Methods The clinical datas of diatal renal tubular acidosis with medullary sponge kidney in a child,as well as the results of whole exome sequencing in the child and his parents was retrospectively analyzed.Results The male patient,aged 11 months,was mainly suffered with hypokalemia,metabolic acidosis,alkaline ruine,urine specific gravity(1.010),and medullary sponge kidney by ultrasound.There was no hearing impairment,renal function impairment and renal bone disease.New missense mutation,c.1766G>A(p.R589H)was detected in the SLC4A1 gene of the child by whole exome sequencing.This mutation was pathogenic and compatible with an autosomal dominant inheritance,so diatal renal tubular acidosis was diagnoised.And we summarize the clinical features and gene mutation of SLC4A1 related with diatal renal tubular acidosis.Conclusion Diatal renal tubular acidosis in children can help doctors to definite gene phenotype and clinical diagnosis by whole exome sequencing.At the same time,literature review was conducted to provide theoretical basis for subsequent diagnosis and genetic counseling of related diseases.

关 键 词：原发性远端肾小管酸中毒 SLC4A1基因 全外显子 低钾血症 

分 类 号：R726.9[医药卫生—儿科]