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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Detalhes bibliográficos
Publicado no:Endocrinol Diabetes Metab Case Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2018
Assuntos:
Unique/Unexpected Symptoms or Presentations of a Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5813712/
https://ncbi.nlm.nih.gov/pubmed/29472987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-17-0139
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