A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation

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.