Nephrogenic diabetes insipidus : Old deletion, new effect. A case report of a family from Greece.

ABSTRACT: Congenital, X-linked, Nephrogenic Diabetes Insipidus (NDI) is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. The gene responsible for this type of NDI, the V2 vasopressin receptor, has been cloned and mapped to Xq28. We report the case of a boy, 2.5 month old, who presented with nephrogenic diabetes insipidus (NDI). The mother and the 7 year old sister of the boy also had the NDI phenotype but did not seek medical attention until the presentation of the boy to our department. The mutational analysis of the patient showed the R337stop mutation, also founded to the mother's genotype analysis. The allele separation in mother revealed the second X chromosomal allele with a 12- bp in-frame deletion. The same in-frame deletion was also found in his s

SUBMITTER: Tramma D 

PROVIDER: S-EPMC3876854 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature