| Summary points: | A 27-year-old woman, with nephrogenic diabetes insipidus (NDI) was referred because pregnancy was evident. Medical history, physical examination, laboratory data, and labour, which was uneventful, are described. Water-deprivation test performed 5 days later confirmed NDI and mutation analyses of the patient and family members were performed by direct DNA sequencing of the AQP2 gene and the AVP V2 receptor. The authors discuss their identification of a compound heterozygous mutation in the AQP2 gene (G100R and T125M) in a female patient with congenital NDI. |
Compound Heterozygous Mutation of Aquaporin 2 Gene in Woman Patient with Congenital Nephrogenic Diabetes Insipidus
