Table of Contents

HK J Paediatr (New Series)
Vol 25. No. 4, 2020

HK J Paediatr (New Series) 2020;25:243-245

Case Report

A Case Report of Congenital Nephrogenic Diabetes Insipidus with Compound Heterozygous Mutation of the Aquaporin-2 Gene in a Chinese Male Infant

F Choi, MT Leung, KL Ng, TKC Tsui


Congenital nephrogenic diabetes insipidus is a rare disorder that affects the kidneys' ability in urine concentration. Both diagnosis and management of the disease, especially during infancy are challenging. We report a five-month-old boy with failure to thrive and hypernatraemic dehydration. The diagnosis of nephrogenic diabetes insipidus was confirmed with water deprivation test and mutation analysis of the aquaprorin-2 (AQP2) gene. Parental genetic analysis showed that the proband is a compound heterozygote for two pathogenic AQP2 variants.

Keyword : Aquaporin-2, AQP2; Congenital nephrogenic diabetes insipidus

Abstract in Chinese


This web site is sponsored by Johnson & Johnson (HK) Ltd.
©2024 Hong Kong Journal of Paediatrics. All rights reserved. Developed and maintained by Medcom Ltd.