Article
The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.
CEN case reports - 1 Jun 2025
Capasso Giusy, Guarino Stefano, Di Sessa Anna, Luciano Margherita, Miraglia Del Giudice Emanuele, Trepiccione Francesco, Marzuillo Pierluigi
Abstract excerpt
Nephrogenic diabetes insipidus (NDI) results from the kidneys' inability to concentrate urine. We describe a 6-month-old male with a history of poor weight gain who presented with an incidental finding of hypernatremia (155 mEq/L) during an episode of acute gastroenteritis. The arginine vasopressin (AVP) test, along with molecular analysis revealing the M272R mutation in the AVP receptor 2 (AVPR2) gene, confirmed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.