{"title":"A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.","authors":"Lei Li, Yong Fan, Guoli Du, Jing Xu, Sheng Jiang","doi":"10.2147/IMCRJ.S514461","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"529-538"},"PeriodicalIF":0.7000,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12054539/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Medical Case Reports Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/IMCRJ.S514461","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
International Medical Case Reports Journal is an international, peer-reviewed, open access, online journal publishing original case reports from all medical specialties. Submissions should not normally exceed 3,000 words or 4 published pages including figures, diagrams and references. As of 1st April 2019, the International Medical Case Reports Journal will no longer consider meta-analyses for publication.
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