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10.1056/NEJMoa042743

http://scihub22266oqcxt.onion/10.1056/NEJMoa042743
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C5340184!5340184!15872203
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suck abstract from ncbi

pmid15872203      N+Engl+J+Med 2005 ; 352 (18): 1884-90
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  • Nephrogenic Syndrome of Inappropriate Antidiuresis #MMPMID15872203
  • Feldman BJ; Rosenthal SM; Vargas GA; Fenwick RG; Huang EA; Matsuda-Abedini M; Lustig RH; Mathias RS; Portale AA; Miller WL; Gitelman SE
  • N Engl J Med 2005[May]; 352 (18): 1884-90 PMID15872203show ga
  • 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 arginine to cysteine or leucine. These novel mutations cause constitutive activation of the receptor and are the likely cause of the patients? SIADH-like clinical picture, which we have termed ?nephrogenic syndrome of inappropriate antidiuresis.?
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