Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus.

@article{Ranadive2009IdentificationCA,
  title={Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus.},
  author={Sayali A Ranadive and Baran A Ersoy and H{\'e}l{\`e}ne Favre and Clement C. Cheung and Stephen Rosenthal and Walter L. Miller and Christian Vaisse},
  journal={Clinical endocrinology},
  year={2009},
  volume={71 3},
  pages={
          388-93
        }
}
OBJECTIVE X-linked nephrogenic diabetes insipidus (XNDI), caused by mutations in the V2 vasopressin receptor (V2R), is clinically distinguished from central diabetes insipidus (CDI) by elevated serum vasopressin (AVP) levels and unresponsiveness to 1-desamino-8-d-arginine vasopressin (DDAVP). We report two infants with XNDI, and present the characterization and functional rescue of a novel V2R mutation. PATIENTS Two male infants presented with poor growth and hypernatraemia. Both patients had… CONTINUE READING

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