Molecular Characterization of an Aquaporin−2 Mutation Causing Nephrogenic Diabetes Insipidus

Molecular Characterization of an Aquaporin−2 Mutation Causing Nephrogenic Diabetes Insipidus

The aquaporin 2 (AQP2) plays a critical role in water reabsorption to maintain water homeostasis. AQP2 mutation leads to nephrogenic diabetes insipidus (NDI), characterized by polyuria, polydipsia, and hypernatremia. We previously reported that a novel AQP2 mutation (G215S) caused NDI in a boy. In t...

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Bibliographic Details
Main Authors: Qian Li, Bichao Lu, Jia Yang, Chao Li, Yanchun Li, Hui Chen, Naishi Li, Lian Duan, Feng Gu, Jianmin Zhang, Weibo Xia
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Endocrinology
Subjects:
aquaporin 2
nephrogenic diabetes insipidus
water reabsorption
polydipsia
hypernatremia
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.665145/full

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https://www.frontiersin.org/articles/10.3389/fendo.2021.665145/full

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