Nephrogenic Syndrome of Inappropriate Antidiuresis in a Female Neonate: Review of the Clinical Presentation in Females.
BACKGROUND
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked disease due to gain-of-function mutations in the AVP V2 receptor gene. Hemizygous males present with recurrent episodes of severe hyponatremia in infancy. Heterozygous females are usually asymptomatic.


METHODS
We report on a 23-day-old female neonate, born at term with 3,260 g that presented with recurrent hyponatremia (Na between 124 and 134 mmol/l) due to NSIAD. She was a heterozygous carrier of the c.409 C>T mutation in the AVPR2 gene.


CONCLUSIONS
This is the first report of a female neonate presenting with hyponatremia due to NSIAD. The diagnosis of NSIAD should not be limited to male infants and should also be considered in female infants with the clinical picture of inappropriate antidiuresis.
Endocrinology Unit, Department of Pediatrics, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
Cécile
C
Brachet
Frédéric
F
Vandergheynst
Claudine
C
Heinrichs
D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007010:Hyponatremia / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D007177:Inappropriate ADH Syndrome / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D007231:Infant, Newborn; D017483:Receptors, Vasopressin / Q000235:genetics*
D017483:Receptors, Vasopressin