Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus

Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus

ObjectiveMutations in AQP2 (aquaporin-2) lead to rare congenital nephrogenic diabetes insipidus (NDI), which has been limitedly studied in Chinese population.MethodsTwenty-five subjects from seven families with NDI in a department (Beijing, PUMCH) were screened for AQP2 mutations. Clinical character...

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Bibliographic Details
Main Authors: Qian Li, Dan Tian, Jing Cen, Lian Duan, Weibo Xia
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Endocrinology
Subjects:
Nephrogenic diabetes insipidus
aquaporin-2
mutation
water resorption
vasopressin V2 receptor
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.686818/full

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https://www.frontiersin.org/articles/10.3389/fendo.2021.686818/full

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