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Case Report: A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr273Met Mutation in Arginine Vasopressin Receptor 2

Authors :
Li Huang
Lina Ma
Tianhong Sun
Linjing Li
Jiajia Luo
Source :
Frontiers in Pediatrics, Vol 9 (2021), Frontiers in Pediatrics
Publication Year :
2021
Publisher :
Frontiers Media S.A., 2021.

Abstract

Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary tubular dysfunction caused mainly by X-linked recessive inheritance ofAVPR2gene mutations. Pathogenic genes are a result of mutations inAVPR2on chromosome Xq28 and inAQP2on chromosome 12q13. The clinical manifestations of CNDI include polyuria, compensatory polydipsia, thirst, irritability, constipation, developmental delay, mental retardation, persistent decrease in the specific gravity of urine, dehydration, and electrolyte disorders (hypernatremia and hyperchloremia). Herein, we report a rare case of CNDI caused by anAVPR2mutation in a 2-year-old Chinese boy who had sustained polyuria, polydipsia, and irritability for more than 20 months. Laboratory examinations showed no obvious abnormality in blood sodium and chloride levels but decreased urine osmolality and specific gravity. Imaging findings were also normal. However, genetic analysis revealed a C > T transition leading to T273M missense mutations in AVPR2. We provided the boy a low-sodium diet and administered oral hydrochlorothiazide and indomethacin for 1 month, after which his clinical symptoms significantly improved. This case report suggests that CNDI is characterized by pathogenic T273M missense mutations alone and expands our understanding of the pathogenesis of CNDI.

Details

Language :
English
ISSN :
22962360
Volume :
9
Database :
OpenAIRE
Journal :
Frontiers in Pediatrics
Accession number :
edsair.doi.dedup.....ca0f2d49571d1a63f1d263c3291cfb89
Full Text :
https://doi.org/10.3389/fped.2021.707452/full