Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

Activating mutations in AVPR2 are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include hypotonia, irritability, vomiting and/or seizures. Symptom...

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Detalles Bibliográficos
Autores principales: Hague, Jennifer, Casey, Ruth, Bruty, Jonathan, Legerton, Tom, Abbs, Stephen, Oddy, Susan, Powlson, Andrew S, Majeed, Mohamed, Gurnell, Mark, Park, Soo-Mi, Simpson, Helen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813712/
https://www.ncbi.nlm.nih.gov/pubmed/29472987
http://dx.doi.org/10.1530/EDM-17-0139

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