Hyponatremia resulting from arginine vasopressin receptor 2 gene mutation.
Chronic hyponatremia, unless associated with extracellular fluid volume expansion, is an infrequent electrolyte imbalance in pediatrics. We report an infant with chronic hyponatremia suggestive of a syndrome of inappropriate secretion of antidiuretic hormone (SIADH), in the absence of ADH secretion. A mutation was found in the same codon of the gene that results in a loss-of- function of arginine vasopressin receptor 2 (AVPR2) observed in congenital nephrogenic diabetes insipidus. In this case, a gain-of- function of AVPR 2 was found to be responsible for a SIADH-like state.
Bes
David Francisco
DF
Department of Pediatrics, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, and Departamento de Riñón Experimental, Instituto de Investigaciones Médicas Dr. Alfredo Lanari, Universidad de Buenos Aires, 1245, Argentina. bespavez@radar.com.ar
Mendilaharzu
Hernán
H
Fenwick
Raymond G
RG
Arrizurieta
Elvira
E
D002908:Chronic Disease; D003937:Diagnosis, Differential; D045604:Extracellular Fluid / Q000378:metabolism; D006801:Humans; D007010:Hyponatremia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D007177:Inappropriate ADH Syndrome / Q000175:diagnosis; D007223:Infant; D008297:Male; D009154:Mutation; D017483:Receptors, Vasopressin / Q000235:genetics*; D012964:Sodium / Q000378:metabolism
D017483:Receptors, Vasopressin; D012964:Sodium