Korean J Nephrol.  2003 Sep;22(5):612-617.

Congenital Nephrogenic Diabetes Insipidus Developing in the Mother and the Son

• Cho JT
• Song TH

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.

Keyword

Congenital nephrogenic diabetes insipidus; X-linked recessive; Vasopressin type 2 receptor; Gene mutation

MeSH Terms

Adult
Arm
Diabetes Insipidus, Nephrogenic*
Female
Genetic Diseases, Inborn
Humans
Incidence
Korea
Male
Mothers*
Prevalence
Vasopressins
X Chromosome
Vasopressins