Nephrogenic syndrome of inappropriate antidiuresis.

@article{Feldman2005NephrogenicSO,
  title={Nephrogenic syndrome of inappropriate antidiuresis.},
  author={Brian J. Feldman and Stephen M. Rosenthal and Gabriel A. Vargas and Raymond G. Fenwick and Eric A Huang and Mina Matsuda-Abedini and Robert H. Lustig and Robert S. Mathias and Anthony A. Portale and Walter Miller and Stephen E. Gitelman},
  journal={The New England journal of medicine},
  year={2005},
  volume={352 18},
  pages={1884-90}
}
The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. We describe two infants whose clinical and laboratory evaluations were consistent with the presence of SIADH, yet who had undetectable arginine vasopressin (AVP) levels. We hypothesized that they had gain-of-function mutations in the V2 vasopressin receptor (V2R). DNA sequencing of each patient's V2R gene (AVPR2) identified missense mutations in both, with resultant changes in codon 137 from… CONTINUE READING
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