Brachet Cécile, Vandergheynst Frédéric, Heinrichs Claudine
Endocrinology Unit, Department of Pediatrics, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
Horm Res Paediatr. 2015;84(1):65-7. doi: 10.1159/000381586. Epub 2015 Apr 25.
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.
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.
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.
抗利尿激素分泌异常综合征（NSIAD）是一种罕见的X连锁疾病，由精氨酸加压素V2受体基因的功能获得性突变引起。半合子男性在婴儿期会反复出现严重低钠血症。杂合子女性通常无症状。
我们报告了一名23日龄的足月女婴，出生体重3260克，因NSIAD出现反复低钠血症（血钠在124至134 mmol/L之间）。她是AVPR2基因c.409 C>T突变的杂合子携带者。
这是首例因NSIAD出现低钠血症的女婴报告。NSIAD的诊断不应局限于男婴，对于有抗利尿异常临床表现的女婴也应予以考虑。
