Adipsic hypernatremia syndrome in infancy.
We report on an infant with chronic hypernatremia due to a congenital defect in osmo-regulation of thirst and the secretion of arginine vasopressin (AVP). A 12 month-old female infant who presented with irritability and signs of dehydration was found to have hypertonic dehydration; plasma osmolality was 430 mOsm/kg B.W. Despite rehydration she remained hypernatremic (serum Na+ 152-158 mEq/l). Lack of signs of thirst led us to the diagnosis of chronic hypernatremia due to adipsia. Laboratory investigation showed: 1. plasma AVP levels were low for plasma osmolality; 2. urine osmolality was normal for plasma AVP, and 3, there was a significant correlation of plasma to urine osmolality (r = 0.72, p < 0.02); however, the slope was markedly reduced indicating partial destruction of the AVP osmoreceptors.
Papadimitriou
A
A
First Department of Pediatrics, Penteli Children's Hospital, Athens, Greece.
Kipourou
K
K
Manta
C
C
Tapaki
G
G
Philippidis
P
P
D001127:Arginine Vasopressin / Q000378:metabolism; D001769:Blood; D003681:Dehydration; D004039:Diet, Sodium-Restricted; D005260:Female; D005440:Fluid Therapy; D006801:Humans; D006955:Hypernatremia / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D007223:Infant; D009994:Osmolar Concentration; D013577:Syndrome; D013894:Thirst; D014556:Urine; D014882:Water-Electrolyte Balance
D001127:Arginine Vasopressin