Congenital Nephrogenic Diabetes Insipidus Developing in the Mother and the Son / 대한신장학회잡지

ABSTRACT

Most cases of congenital nephrogenic diabetes insipidus (NDI) are transmitted in an X-linked recessive manner and are caused by mutations in the vasopressin type 2 receptor (AVPR2) genes on the long arm of the X chromosome (Xq28). In these cases, female carriers are usually asymptomatic, and most patients are male. X-linked NDI is a rare hereditary disease with an estimated prevalence and incidence of approximately four to nine per one million males. Although several cases of congenital NDI diagnosed in the childhood were reported in Korea, there were few reports about congenital NDI diagnosed in the adult and documented by the mutational analysis. We have experienced two cases of congenital NDI developing in the mother and the son, diagnosed in the adult, and confirmed to be caused by mutation (R113W) in AVPR2 gene. Therefore, we report these cases with a brief review of the literature.