未发现基因突变的肾性尿崩症一例报告

肾性尿崩症是一种典型的少见疾病，且遗传性肾性尿崩症的诊断主要依赖于临床表现和基因检测。截至目前，肾性尿崩症仍未引起患者的重视。虽然目前用于诊断肾性尿崩症的基因检测手段越来越普及，但仍有被忽略的案例，导致相应并发症的出现。本文报道南昌大学第一附属医院临床高度怀疑肾性尿崩症的1例患者，对患者及其父母进行精氨酸加压素受体2（AVPR2）基因和水通道蛋白2（AQP2）全外显子基因测序，却未发现有意义的突变。但患者经氢氯噻嗪口服治疗后，症状明显好转，值得临床注意。

Nephrogenic Diabetes Insipidus without Gene Mutation:a Case Report

Nephrogenic diabetes insipidus is a typical rare disease,and the diagnosis of hereditary nephrogenic diabetes insipidus mainly depends on clinical manifestations and genetic testing.Up to now,nephrogenic diabetes insipidus has not attracted the attention of patients.Although the genetic testing methods used to diagnose nephrogenic diabetes insipidus are becoming more and more popular,there are still cases that are ignored,leading to the emergence of corresponding complications.Therefore,we report a case of nephrogenic diabetes insipidus with high clinical suspicion in the First Affiliated Hospital of Nanchang University,and sequenced the whole exon gene of arginine vasopressin type 2 receptor(AVPR2)gene and aquaporin 2(AQP2)in patients and their parents,but found no meaningful mutations.After oral administration of hydrochlorothiazide,the patient's symptoms improved significantly,which is worthy of clinical attention.