Autosomal dominant nephrogenic diabetes insipidus in one family caused by a novel AQP2 mutation.
Journal
Nephrology (Carlton, Vic.)
Journal Volume
29
Journal Issue
12
ISSN
1440-1797
Date Issued
2024-12
Author(s)
Abstract
A 9-month-old male presented with vomiting and dehydration with mild hypernatremia in the context of failure to thrive. He was later diagnosed with nephrogenic diabetes insipidus (NDI) during this hospitalisation and was also found to have eosinophilic esophagitis (EoE). He has since been growing well after EoE and NDI were properly managed. Molecular genetic testing revealed an unreported deletion in AQP2 which was deemed pathogenic and of autosomal dominant inheritance when correlated with his clinical findings and family history. This case report describes the clinical course of this patient in comparison to his family members and reviews current literature on autosomal dominant NDI caused by AQP2 mutations.
Subjects
AQP2
autosomal dominant
case report
genetic testing
nephrogenic diabetes insipidus
paediatric nephrology
SDGs
Type
journal article