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2005 ; 352
(18
): 1884-90
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Nephrogenic syndrome of inappropriate antidiuresis
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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
PMID15872203
show 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."