同胞姐妹水通道蛋白2基因突变致先天性肾性尿崩症2例并文献复习  

Congenital renal diabetes insipidus caused by aquaporin 2 gene mutation in siblings:2 cases report and literature review

作　　者：郭倩倩 朱超霞 刘凯琳 彭慧芳 李春 姜宏卫[1] 李利平 Guo Qianqian;Zhu Chaoxia;Liu Kailin;Peng Huifang;Li Chun;Jiang Hongwei;Li Liping(Department of Endocrinology and Metabolism,the First Affiliated Hospitalof Henan University of Science and Technology&College of Clinical Medicine of Henan University of Science and Technology,Luoyang 471003,China)

机构地区：[1]河南科技大学临床医学院、河南科技大学第一附属医院内分泌代谢科,洛阳471003

出　　处：《中国综合临床》2023年第1期44-50,共7页Clinical Medicine of China

摘　　要：目的提高临床医生对先天性肾性尿崩症(congenital nephrogenital diabetes insipidus,CNDI)的认识以减少漏诊、误诊。方法结合文献回顾性分析河南科技大学第一附属医院内分泌代谢科2020年7月30日收治的2例同胞姐妹共患CNDI的临床资料及基因突变情况。结果(1)先证者,4岁,烦渴、多饮、多尿3年余;妹妹2.5岁,烦渴、多饮、多尿2年余。临床诊断为“CNDI”,给予氢氯噻嗪治疗后症状改善。(2)基因检测发现先证者及其妹妹水通道蛋白2(aquaporin-2,AQP2)基因存在c.170A>C(p.Q57P)和c.211G>A(p.Vl71M)的杂合突变,母亲携带AQP2基因的c.170A>C(p.Q57P)突变。结论CNDI为罕见病,早期诊断和治疗可最大程度改善患者预后,产前诊断可指导优生优育。Objective To improve clinicians'understanding of congenital nephrogenital diabetes insipidus(CNDI)and to reduce missed and misdiagnosis.Methords Based on the literature,the clinical data and gene mutation of 2 patients with CNDI who were admitted to the Department of Endocrinology and Metabolism of the First Affiliated Hospital of Henan University of Science and Technology on July 30,2020 were analyzed retrospectively.Results(1)The presentee,4 years old,had irritable thirst,polydipsia and polyuria for more than 3 years.The sister,2.5 years old,had irritable thirst,polydipsia and polyuria for more than 2 years.The clinical diagnosis was“CNDI”,and the symptoms improved after treatment with hydrochlorothiazide.(2)The genetic test revealed that the congenital nephrogenic uremia and her sister had a heterozygous mutation of c.170A>C(p.Q57P)and c.211G>A(p.Vl71M)in the aquaporin-2 gene,and the mother carried the AQP2 gene.c.170A>C(p.Q57P)mutation.Conclusion CNDI is a rare disease.Early diagnosis and treatment can improve the prognosis of patients to the greatest extent,and prenatal diagnosis can guide eugenics.

关 键 词：先天性肾性尿崩症 精氨酸加压素受体 AQP2基因 常染色体隐性遗传 

分 类 号：R725.8[医药卫生—儿科]