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

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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Bibliographic Details
Main Authors: Lina Ma, Dengyan Wu, Xingmin Wang, Yonghong Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-01-01
Series:Frontiers in Pediatrics
Subjects:
congenital nephrogenic diabetes insipidus
aquaporin 2
missense mutation
water reabsorption
autosomal recessive inheritance
T108M variant
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00015/full

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