A family of congenital nephrogenic diabetes insipidus caused by AVPR2 mutation and urinary tract obstruction: A case report and literature review

VernacularTitle:AVPR2突变致先天性肾性尿崩症合并尿路梗阻一例家系报道并文献复习
Author: Shirui WANG ¹ ; Kanghao ZHOU ¹ ; Wan SU ¹ ; Zhixiang WANG ¹ ; Yue CHI ¹
Author Information

1. 中国医学科学院北京协和医学院，北京协和医院内分泌科，国家卫生健康委员会内分泌重点实验室，北京　100730
Publication Type:Journal Article
Keywords: Nephrogenic diabetes insipidus; Arginine vasopressin resistance; AVPR2 gene; Copeptin
From: Chinese Journal of Endocrinology and Metabolism 2025;41(9):773-777
CountryChina
Language:Chinese
Abstract: The article reports the diagnosis and treatment of a patient with congenital nephrogenic diabetes insipidus(NDI) caused by vasopressin V2 receptor(AVPR2) mutation. The proband presented with polyuria and polydipsia since early childhood. Urinary retention and bilateral hydronephrosis developed during the last year. The diagnosis of NDI was confirmed through an indirect water deprivation test and copeptin measurement. Genetic testing revealed a hemizygous truncating mutation in the AVPR2 gene. This article introduces the diagnostic approach for diabetes insipidus and elaborates the clinical value of copeptin in the differential diagnosis between NDI and central diabetes insipidus. A literature review was conducted to summarize the pathogenic mechanisms, clinical features, treatment, prognosis, and management of complications in NDI with AVPR2 mutation.