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Adipsic hypernatremia in two sisters.

G Radetti1, F Rizza, G Mengarda

  • 1Department of Pediatrics, Regional Hospital of Bolzano, Italy.

American Journal of Diseases of Children (1960)
|March 1, 1991
PubMed
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This study reports on two sisters with chronic hypernatremia and absent thirst, indicating a severe defect in hypothalamic osmoreceptors controlling thirst and vasopressin secretion.

Area of Science:

  • Endocrinology
  • Neuroscience
  • Genetics

Background:

  • Familial cases of disorders of thirst and water balance are rare.
  • Understanding the regulation of thirst and vasopressin secretion is crucial for managing fluid balance.

Observation:

  • Two sisters presented with chronic hypernatremia, a complete lack of thirst, and abnormal vasopressin secretion.
  • One sister had microcephaly, developmental delay, midline brain structural abnormalities, and an intracranial cyst.
  • Neither sister experienced thirst even with severely elevated plasma osmolality (>337 mmol/kg).

Findings:

  • Vasopressin secretion was unresponsive to osmotic and non-osmotic stimuli and not suppressed by water loading in both patients.
  • Forced hydration and desamino-D-arginine vasopressin normalized plasma osmolality.

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  • These results suggest a profound defect in hypothalamic osmoreceptors responsible for thirst and vasopressin regulation.

    • Implications:

    • This case series highlights a potential genetic basis for severe osmoreceptor dysfunction.
    • It underscores the critical role of hypothalamic osmoreceptors in maintaining water homeostasis.
    • Further research into the genetic and molecular mechanisms underlying this disorder is warranted.