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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Dettagli Bibliografici
Pubblicato in:Endocrinol Diabetes Metab Case Rep
Autori principali: Hague, Jennifer, Casey, Ruth, Bruty, Jonathan, Legerton, Tom, Abbs, Stephen, Oddy, Susan, Powlson, Andrew S, Majeed, Mohamed, Gurnell, Mark, Park, Soo-Mi, Simpson, Helen
Natura: Artigo
Lingua:Inglês
Pubblicazione: Bioscientifica Ltd 2018
Soggetti:
Unique/Unexpected Symptoms or Presentations of a Disease
Accesso online: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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