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Case Report: A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr273Met Mutation in Arginine Vasopressin Receptor 2
- 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.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
water reabsorption
030232 urology & nephrology
Case Report
Pediatrics
RJ1-570
03 medical and health sciences
type 2 arginine vasopressin receptor 2
0302 clinical medicine
Hyperchloremia
Polyuria
Internal medicine
Arginine vasopressin receptor 2
Medicine
Missense mutation
X-linked recessive inheritance
business.industry
missense mutation
medicine.disease
congenital nephrogenic diabetes insipidus
030104 developmental biology
Endocrinology
Aquaporin 2
Pediatrics, Perinatology and Child Health
Hypernatremia
medicine.symptom
business
Polydipsia
Subjects
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