Persistent elevation of urine aquaporin-2 during water loading in a child with nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by a R137L mutation in the V2 vasopressin receptor

Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) is a novel disease caused by a gain-of-function mutation in the V2 vasopressin receptor (V2R), which results in water overload and hyponatremia. We report the effect of water loading in a 3-year old boy with NSIAD, diagnosed in infancy, to a...

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Bibliografiset tiedot
Päätekijät: Cheung, Clement C, Cadnapaphornchai, Melissa A, Ranadive, Sayali A, Gitelman, Stephen E, Rosenthal, Stephen M
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2012
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3299583/
https://ncbi.nlm.nih.gov/pubmed/22325688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1687-9856-2012-3
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