A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr108Met Variant of Aquaporin 2

Congenital nephrogenic diabetes insipidus (CNDI) is a rare renal disorder caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2). The clinical signs of CNDI include polyuria, compensatory polydipsia, dehydration, electrolyte disorder, and developmental retardation witho...

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Detalles Bibliográficos
Autores principales: Ma, Lina, Wu, Dengyan, Wang, Xingmin, Yang, Yonghong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7002472/
https://www.ncbi.nlm.nih.gov/pubmed/32083042
http://dx.doi.org/10.3389/fped.2020.00015

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