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Nephrogenic Syndrome of Inappropriate Antidiuresis
Open accessAbstract
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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Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
Vaisse, C., Clement, K., Durand, E., Hercberg, S., Guy-Grand, B., & Froguel, P. (2000) · Journal of Clinical Investigation · doi:10.1172/jci9238 · Cited by 897
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Copeptin in the Differential Diagnosis of Hyponatremia
Fenske, W., Störk, S., Blechschmidt, A., Maier, S. G. K., Morgenthaler, N. G., & Allolio, B. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1426 · Cited by 212
Metadata
- Authors
- Feldman, B. J., Rosenthal, S. M., Vargas, G. A., Fenwick, R. G., Huang, E. A., Matsuda-Abedini, M., Lustig, R. H., Mathias, R. S., Portale, A. A., Miller, W. L., & Gitelman, S. E.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2005-05-05
- Volume
- 352
- Issue
- 18
- Pages
- 1884-1890
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2071539007
- Cited by
- 393
- References
- 1
- FWCI
- 13.32
- Type
- journal article
- Language
- en
- Open access
- bronze
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