Nephrogenic Syndrome of Inappropriate Antidiuresis: Case Report and Genetic Perspectives.
Xiao-Juan Chen, Min Kou, Mei Feng et al.
✦ AI-curated · Sources linked
Case in brief
A 3-year-old male presented with intermittent convulsions and chronic hyponatremia. Genetic testing revealed a de novo hemizygous variant in the AVPR2 gene, confirming nephrogenic syndrome of inappropriate antidiuresis (NSIAD). The patient managed his condition through spontaneous water restriction, leading to normalized serum sodium levels and resolution of symptoms during follow-up evaluations.
What made this case unusual
The case highlights a de novo hemizygous hotspot variant in the AVPR2 gene as the underlying cause of NSIAD, which is a rare genetic condition.
Diagnostic / clinical pearl
Clinicians should consider nephrogenic syndrome of inappropriate antidiuresis in cases of unexplained hyponatremia, particularly in pediatric patients.
Why it matters
This case underscores the importance of genetic testing in diagnosing NSIAD, which can guide effective management and improve patient outcomes.