Li Lei, Fan Yong, Du Guoli, Xu Jing, Jiang Sheng
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.
Int Med Case Rep J. 2025 May 2;18:529-538. doi: 10.2147/IMCRJ.S514461. eCollection 2025.
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.
本研究报告了一例中国回族家庭中的遗传性肾性尿崩症（CNDI）病例。通过综合分析该家庭成员的临床症状、基因检测结果和治疗效果，我们证实AVPR2基因中的c.818C>T（p.T273M）错义突变是该家庭中CNDI发病的根本原因。本研究不仅揭示了基因检测在CNDI诊断和治疗中的重要性，还意外地发现去氨加压素在这种特定突变情况下可能具有良好的治疗效果。此外，本研究提供了关于CNDI的遗传咨询、产前筛查和心理社会影响的信息，可为类似病例的管理提供参考。
