Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.

@article{Sahakitrungruang2010FunctionalCO,
  title={Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.},
  author={Taninee Sahakitrungruang and Meng Kian Tee and Natthakorn Rattanachartnarong and Vorasuk Shotelersuk and Kanya Suphapeetiporn and Walter Miller},
  journal={Hormone research in paediatrics},
  year={2010},
  volume={73 5},
  pages={
          349-54
        }
}
BACKGROUND AVPR2 mutations cause most cases of nephrogenic diabetes insipidus (NDI); 211 AVPR2 mutations have been described, but only 7 are described causing partial NDI. METHODS Two unrelated Thai boys had polyuria and polydipsia in infancy but had normal electrolytes and serum osmolality at 2 years of age. Patient 1 could not concentrate his urine in response to water deprivation or 1-desamino-8-D-arginine vasopressin (DDAVP); patient 2 could concentrate to approximately 600 mosm/l. The… CONTINUE READING