Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant

X-linked nephrogenic diabetes insipidus (NDI) is caused by variations in arginine vasopressin receptor 2 (AVPR2). Some patients show partial resistance to arginine vasopressin (AVP). A 19-month-old Japanese boy presented with polydipsia since infancy. His mother had a history of polydipsia during pr...

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Detalles Bibliográficos
Autores principales: Ishida, Atsushi, Mizuno, Haruo, Aoyama, Kohei, Sasaki, Shiori, Negishi, Yutaka, Arakawa, Takeshi, Mori, Takayasu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8713061/
https://www.ncbi.nlm.nih.gov/pubmed/35002068
http://dx.doi.org/10.1297/cpe.2021-0029

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8713061/
https://www.ncbi.nlm.nih.gov/pubmed/35002068
http://dx.doi.org/10.1297/cpe.2021-0029

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