A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus

We describe a paediatric case of nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 gene (AVPR2) in the absence of a family history of congenital polyuria. The patient, a 5-month-old Caucasian boy, had failure to thrive and hypernatraemia. On admission...

Descripción completa

Detalles Bibliográficos
Autores principales: Kobayashi, Daisuke, Nagaraj, Shashi K., Lin, Jen-Jar, Bichet, Daniel G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421425/
https://www.ncbi.nlm.nih.gov/pubmed/25949462
http://dx.doi.org/10.1093/ndtplus/sfq158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421425/
https://www.ncbi.nlm.nih.gov/pubmed/25949462
http://dx.doi.org/10.1093/ndtplus/sfq158

Ejemplares similares