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Previous Volume 352:1884-1890 May 5, 2005 Number 18 Next

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SUMMARY

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."

Source Information

From the Department of Pediatrics, Divisions of Endocrinology (B.J.F., S.M.R., E.A.H., R.H.L., W.L.M., S.E.G.) and Nephrology (M.M.-A., R.S.M., A.A.P.), and the Department of Psychiatry (G.A.V.), University of California at San Francisco, San Francisco; and Quest Diagnostics Nichols Institute, San Juan Capistrano, Calif. (R.G.F.).

Drs. Feldman and Rosenthal contributed equally to this article.

Address reprint requests to Dr. Gitelman at the University of California at San Francisco, Division of Pediatric Endocrinology, 513 Parnassus Ave., Rm. S679, Box 0434, San Francisco, CA 94143, or at sgitelma{at}peds.ucsf.edu.

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Nephrogenic Syndrome of Inappropriate Antidiuresis
Segal A., Chang C.-F., Yang W.-C., Lin C.-C., Gitelman S. E., Feldman B. J., Rosenthal S. M.
Extract | Full Text | PDF  
N Engl J Med 2005; 353:529-530, Aug 4, 2005. Correspondence

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