Lei Li,* Yong Fan,* Guoli Du, Jing Xu, Sheng Jiang

State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia; Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830017, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Sheng Jiang, Email xjjsh2022@126.com

Abstract: A case of hereditary nephrogenic diabetes insipidus (CNDI) in a Chinese Hui family is reported in this study. By comprehensively analysing the clinical symptoms, genetic test results and treatment outcomes of the family members, we confirmed that the c.818C>T(p.T273M) missense mutation in the AVPR2 gene was the underlying cause of the development of CNDI in this family. This study not only revealed the importance of genetic testing in the diagnosis and treatment of CNDI, but also unexpectedly revealed that desmopressin may have favorable therapeutic efficacy in the context of this specific mutation. In addition, this study provides information on genetic counseling, prenatal screening, and psychosocial implications of CNDI, which may inform the management of similar cases.

Keywords: nephrogenic diabetes insipidus, CNDI, AVPR2 gene, desmopressin, genetic testing