Department of Endocrinology, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310003, Zhejiang province, China.
Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310003, Zhejiang province, China.
BMC Endocr Disord. 2021 Apr 21;21(1):78. doi: 10.1186/s12902-021-00749-y.
Diabetes insipidus (DI) can be a common cause of polydipsia and polyuria. Here, we present a case of congenital nephrogenic diabetes insipidus (CNDI) accompanied with central diabetes insipidus (CDI) secondary to pituitary surgery.
A 24-year-old Chinese woman came to our hospital with the complaints of polydipsia and polyuria for 6 months. Six months ago, she was detected with pituitary apoplexy, and thereby getting pituitary surgery. However, the water deprivation test demonstrated no significant changes in urine volume and urine gravity in response to fluid depression or AVP administration. In addition, the genetic results confirmed a heterozygous mutation in arginine vasopressin receptor type 2 (AVPR2) genes.
She was considered with CNDI as well as acquired CDI secondary to pituitary surgery. She was given with hydrochlorothiazide (HCTZ) 25 mg twice a day as well as desmopressin (DDAVP, Minirin) 0.1 mg three times a day. There is no recurrence of polyuria or polydipsia observed for more than 6 months. It can be hard to consider AVPR2 mutation in female carriers, especially in those with subtle clinical presentation. Hence, direct detection of DNA sequencing with AVPR2 is a convenient and accurate method in CNDI diagnosis.
尿崩症（DI）可作为多饮和多尿的常见病因。在此，我们报告 1 例先天性肾性尿崩症（CNDI）伴因垂体手术引起的中枢性尿崩症（CDI）的病例。
一名 24 岁的中国女性因多饮和多尿症状就诊，病史长达 6 个月。6 个月前，该患者因垂体卒中接受了垂体手术。然而，禁水试验显示，在液体剥夺或给予血管加压素（AVP）后，尿量和尿比重均无明显变化。此外，基因检测结果证实存在精氨酸加压素受体 2（AVPR2）基因杂合突变。
该患者被诊断为 CNDI 合并因垂体手术引起的获得性 CDI。给予氢氯噻嗪（HCTZ）25mg，每日两次，以及去氨加压素（DDAVP，Minirin）0.1mg，每日三次。6 个月后，多尿和多饮未再复发。女性携带者，尤其是临床表现不明显的女性携带者，可能很难考虑存在 AVPR2 突变。因此，AVPR2 的直接 DNA 测序检测是 CNDI 诊断的一种便捷且准确的方法。
