What question did this study set out to answer?

To describe the case management of congenital nephrogenic diabetes insipidus associated with the Leu44Phe variant in vasopressin receptor 2.

April 18, 2026

Congenital Nephrogenic Diabetes Insipidus With the Leu44Phe Variant in Vasopressin Receptor 2 Managed With DDAVP

Key Points

To describe the case management of congenital nephrogenic diabetes insipidus associated with the Leu44Phe variant in vasopressin receptor 2.
Assessment of laboratory data on initial visit
Conducting an AVP stimulation test
Management with DDAVP therapy
The initial evaluation confirmed nephrogenic diabetes insipidus diagnosis
AVP stimulation test provided significant findings
DDAVP treatment resulted in improved management of symptoms

Abstract

The authors declare no conflicts of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Table S1: Laboratory data on initial visit. Table S2: AVP stimulation test findings. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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