A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree

Polyuria and polydipsia are the characteristics of congenital nephrogenic diabetes insipidus (CNDI). Approximately 90% of all patients with CNDI have X-linked hereditary disease, which is due to a mutation of the arginine vasopressin receptor 2 (AVPR2) gene. This case report describes a 54-year-old...

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Detalles Bibliográficos
Autores principales: Guo, Wei-Hong, Li, Qiang, Wei, Hong-Yan, Lu, Hong-Yan, Qu, Hui-Qi, Zhu, Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536559/
https://www.ncbi.nlm.nih.gov/pubmed/27565746
http://dx.doi.org/10.1177/0300060516655642

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536559/
https://www.ncbi.nlm.nih.gov/pubmed/27565746
http://dx.doi.org/10.1177/0300060516655642

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