title: Hyponatremia resulting from arginine vasopressin receptor 2 gene mutation.
abstract: 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.
authors.affiliation: 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
authors.forename: David Francisco
authors.initials: DF
authors.lastname: Bes
authors.forename: Hernán
authors.initials: H
authors.lastname: Mendilaharzu
authors.forename: Raymond G
authors.initials: RG
authors.lastname: Fenwick
authors.forename: Elvira
authors.initials: E
authors.lastname: Arrizurieta
mesh_terms: 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
chemical_list: D017483:Receptors, Vasopressin; D012964:Sodium