Autosomal dominant nephrogenic diabetes insipidus in one family caused by a novel AQP2 mutation.

Abstract excerpt

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...

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