AQP2基因突变所致先天性肾性尿崩症1例并文献复习  

Study on a case of congenital nephrogenic diabetes insipidus caused by AQP2 gene mutation and review of relevant literature

作　　者：陈秀清[1] 吴佩文[1] 刘东晖[1] CHEN Xiuqing;WU Peiwen;LIU Donghui(Department of Endocrinology,the First Affiliated Hospital of Fujian Medical University,Fujian Clinical Research Center for Metabolic Diseases,Fujian Institute of Diabetes Prevention and Control,Institute of Metabolic Diseases Affiliated to Fujian Medical University,Fujian,Fuzhou 350004,China)

机构地区：[1]福建医科大学附属第一医院内分泌科,福建省代谢性疾病临床医学研究中心,福建省糖尿病防治研究院,福建医科大学代谢病研究所,福建福州350004

出　　处：《中国医药科学》2022年第6期189-192,共4页China Medicine And Pharmacy

基　　金：福建医科大学妇女理论研究课题(2018FN006)。

摘　　要：目的对1例先天性肾性尿崩症患者进行临床及基因分析。方法对1例自婴儿期出现多饮、多尿症状的患者进行临床和实验室检查,并采集患者及其父母、哥哥的外周血,提取基因组DNA,用PCR扩增血管加压素2受体(AVPR2)及水通道蛋白-2(AQP2)基因的全部编码区,并进行直接测序。结果患者自婴儿期开始出现脱水症状,9岁确诊为肾性尿崩症时伴发了肾功能不全、身材矮小、智力低下症状。基因检测发现患者AQP2基因存在c.211G>A(p.V71M)纯合子突变。结论先天性肾性尿崩症早期诊断困难,基因检测有助于早期明确诊断。Objective To analyze a patient with congenital nephrogenic diabetes insipidus(NDI)clinically and genetically.Methods A patient who presented with symptoms of polydipsia and polyuria since infancy was examined for clinical and laboratory indexes.The peripheral blood was collected from the patient,her parents and brother for genomic DNA extraction,followed by amplifying and directly sequencing all coding regions of AVPR2 and AQP2 genes with polymerase chain reaction(PCR).Results The patient had symptoms of dehydration since infancy,and was diagnosed with NDI complicated with renal insufficiency,short stature,and mental retardation at the age of 9 years old.Genetic testing revealed the presence of a homozygous nonsense mutation(c.211G>A[p.V71M])in the AQP2 gene of the patient.Conclusion Early diagnosis of congenital NDI is difficult,and genetic testing is conducive to early and accurate diagnosis.

关 键 词：肾性尿崩症 水通道蛋白-2基因 基因突变 身材矮小 

分 类 号：R722.1[医药卫生—儿科]