July - September 2020, Volume 16, Issue 3

Chen L, Gu T, Yang LZ

A Novel Intragenic Deletion Related to the Arginine Vasopressin V2 Receptor Causes Nephrogenic Diabetes Insipidus

Acta Endo (Buc) 2020, 16 (3): 295-297
doi: 10.4183/aeb.2020.295

Background. Nephrogenic diabetes insipidus (NDI) is a disease characterized by a defective response to the antidiuretic hormone (ADH) of the renal collecting duct leading to a decline in the ability of the pro-urine concentration. Case presentation. A 23-year-old man presented with an over 20-year history of polyuria concomitant with hydronephrosis. The diagnosis of NDI was established by gene analysis as well as a water-deprivation and vasopressin test. All exons of arginine vasopressin V2 receptor (AVPR2) gene were amplified and sequenced. A novel hemizygous intragenic inframe deletion, cDNA 255th bp to 263th bp in exon 2 of AVPR2, was identified. These relevant translations from the 85th amino acid Asp to 88th amino acid Val were missed and replaced by amino acid Glu. After treating the patient with hydrochlorothiazide, his symptoms improved significantly. Conclusion. The genetic analysis revealed a novel X-linked intragenic inframe deletion, AVPR2 gene cDNA 255th bp to 263th bp, causing NDI.

Keywords: Nephrogenic diabetes insipidus, polyuria, arginine vasopressin V2 receptor, intragenic inframe deletion.

Correspondence: Li-Zhen Yang MD, Shanghai Ninth People’s Hospital affiliated to Shanghai Jiaotong University School of Medicine, Division of Endocrinology and Metabolism, 639 Zhizaoju Road, Shanghai, 200011, China, E-mail: dryanginsh@yahoo.com