Nephrogenic Diabetes Insipidus - A Rare Differential Diagnosis of Bilateral Hydronephrosis in Adults: A Case Report and Literature Review

Chang G, Chen W, Hong Z and Rong L

Published on: 2021-03-18


Objective: Nonobstructive hydronephrosis can be a key manifestation of nephrogenic diabetes insipidus (NDI), more commonly in hereditary rather than the acquired form.

Presentation of case: We report a case of a 29-year-old adult presented with elevated kidney function and bilateral hydronephrosis. After meticulous investigation, the diagnosis of hereditary NDI was made. Exon-wide sequencing analysis demonstrated a novel c.328delG mutation of arginine vasopressin receptor 2 (AVPR2) gene, resulting in a truncated AVPR2 protein. Treatment with thiazide and prostaglandin synthetase inhibitor resulted in limited response. We also performed a review of case reports through PubMed indexing bilateral nonobstructive hydronephrosis in adults. The most common etiology is NDI, with all of them hereditary in origin.

Conclusion: Bilateral nonobstructive hydronephrosis is an uncommon finding among adults and NDI should be at the top of the list among the differential diagnosis, as if diagnosed and managed early on, the risk of kidney injury could be reduced, as well as improvements in quality of life.