AQP2基因突变致先天性肾性尿崩症1例并文献复习  

CONGENITAL NEPHROGENIC DIABETES INSIPIDUS CAUSED BY AQP2 GENE MUTATION:A CASE REPORT AND LITERATURE REVIEW

作　　者：孙梦欣 冷雪霏 张丽娟[1] 陈志红[1] SUN Mengxin;LENG Xuefei;ZHANG Lijuan;CHEN Zhihong(Department of Neurology and Endocrine Pediatrics, The Affiliated Hospital of Qingdao University, Qingdao 266003, China)

机构地区：[1]青岛大学附属医院神经内分泌儿科,山东青岛266003

出　　处：《精准医学杂志》2020年第3期270-273,共4页Journal of Precision Medicine

摘　　要：目的提高临床医生对肾性尿崩症(NDI)尤其是先天性NDI(CNDI)的认识。方法总结1例CNDI患儿的临床资料,检测其水通道蛋白2(AQP2)基因突变情况,并结合文献进行复习。结果患者,男,10岁,自幼多尿、多饮,曾诊断“中枢性尿崩症”,加压素替代治疗无反应;多尿、多饮逐渐加重,憋尿时间缩短影响学习成绩,10岁再次就诊,临床诊断为“肾性尿崩症”,给予氢氯噻嗪治疗,多尿、多饮症状改善;基因检测发现AQP2基因c.727delG,证实为CNDI。结论该病为少见病,普遍存在延误诊断情况,本例患儿通过基因检测后明确诊断为AQP2基因移码突变导致的CNDI,该突变为国内首次报道的新突变。Objective To improve the understanding of nephrogenic diabetes insipidus(NDI),especially congenital NDI(CNDI),among clinicians.Methods The clinical information of a child with CNDI and the aquaporin 2(AQP2)gene mutation status were summarized,and relevant literature was reviewed.Results The patient was a 10-year-old boy and had polyuria and polydipsia since childhood.He was once diagnosed with“central diabetes insipidus”,but showed no response to vasopressin replacement therapy.After that,his symptoms of polyuria and polydipsia became worse and frequent urination affected his study perfor-mance.When the child was 10 years old,he was diagnosed with“nephrogenic diabetes insipidus”,and the symptoms of polyuria and polydipsia were improved after being treated with hydrochlorothiazide.The genetic testing result revealed the mutation of AQP2 c.727delG,and the diagnosis of CNDI was confirmed.Conclusion CNDI is a rare disease and delayed diagnosis is common.In this case,the diagnosis of CNDI caused by the frameshift mutation in the AQP2 gene was confirmed by genetic testing.This mutation is a de novo mutation first reported in China.

关 键 词：尿崩症 肾性 遗传性疾病 先天性 AQP 2基因 基因检测 诊断 多尿 烦渴 治疗学 

分 类 号：R725.843[医药卫生—儿科]