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Adipsic hypernatremia in two sisters.
Am J Dis Child. 1991 Mar; 145(3):321-5.AJ

Abstract

We describe two sisters with chronic hypernatremia, lack of thirst, and inappropriate osmoregulated vasopressin secretion. Only one sister, who presented with microcephaly and developmental delay, showed signs of dysplasia of the midline structures (ie, septum pellucidum and corpus callosum) and a large intracranial cyst. Neither sister showed any signs of thirst, even when osmolality exceeded 337 mmol/kg. In both patients, the vasopressin secretion did not respond to either osmotic or nonosmotic stimuli or was suppressed by a water load. Plasma osmolality values returned to normal after treatment with forced hydration and a vasopressin analogue, desamino-D-arginine vasopressin. These findings indicate a severe defect in the hypothalamic osmoreceptors that control thirst and vasopressin secretion. To our knowledge, this is the first report of such a disorder in two sisters.

Authors+Show Affiliations

Department of Pediatrics, Regional Hospital of Bolzano, Italy.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2003483

Citation

Radetti, G, et al. "Adipsic Hypernatremia in Two Sisters." American Journal of Diseases of Children (1960), vol. 145, no. 3, 1991, pp. 321-5.
Radetti G, Rizza F, Mengarda G, et al. Adipsic hypernatremia in two sisters. Am J Dis Child. 1991;145(3):321-5.
Radetti, G., Rizza, F., Mengarda, G., & Pittschieler, K. (1991). Adipsic hypernatremia in two sisters. American Journal of Diseases of Children (1960), 145(3), 321-5.
Radetti G, et al. Adipsic Hypernatremia in Two Sisters. Am J Dis Child. 1991;145(3):321-5. PubMed PMID: 2003483.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adipsic hypernatremia in two sisters. AU - Radetti,G, AU - Rizza,F, AU - Mengarda,G, AU - Pittschieler,K, PY - 1991/3/1/pubmed PY - 1991/3/1/medline PY - 1991/3/1/entrez SP - 321 EP - 5 JF - American journal of diseases of children (1960) JO - Am J Dis Child VL - 145 IS - 3 N2 - We describe two sisters with chronic hypernatremia, lack of thirst, and inappropriate osmoregulated vasopressin secretion. Only one sister, who presented with microcephaly and developmental delay, showed signs of dysplasia of the midline structures (ie, septum pellucidum and corpus callosum) and a large intracranial cyst. Neither sister showed any signs of thirst, even when osmolality exceeded 337 mmol/kg. In both patients, the vasopressin secretion did not respond to either osmotic or nonosmotic stimuli or was suppressed by a water load. Plasma osmolality values returned to normal after treatment with forced hydration and a vasopressin analogue, desamino-D-arginine vasopressin. These findings indicate a severe defect in the hypothalamic osmoreceptors that control thirst and vasopressin secretion. To our knowledge, this is the first report of such a disorder in two sisters. SN - 0002-922X UR - https://www.unboundmedicine.com/medline/citation/2003483/Adipsic_hypernatremia_in_two_sisters_ DB - PRIME DP - Unbound Medicine ER -