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Long-Term Outcomes in a Family with Nephrogenic Syndrome of Inappropriate Antidiuresis

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Author(s): Cho YoonHi | Gitelman Stephen | Rosenthal Stephen | Ambler Geoffrey

Journal: International Journal of Pediatric Endocrinology
ISSN 1687-9848

Volume: 2009;
Issue: 1;
Start page: 431527;
Date: 2009;
Original page

ABSTRACT
We report a familial case of the nephrogenic syndrome of inappropriate antidiuresis (NSIAD), including 30-year followup data on two patients. The proband and one maternal uncle presented in their infancy with severe recurrent hyponatremia, and clinical pictures consistent with the syndrome of inappropriate antidiuretic hormone (SIADH) in the absence of an elevated ADH level. They were both confirmed to be hemizygous for the R137C mutation on the V2R gene (AVPR2), the same locus of the gain of function mutation demonstrated in the original reports of this condition. The proband's mother was identified as an asymptomatic carrier of this X-linked condition. Our case describes a favourable long-term outcome for NSIAD, in particular, successful treatment with oral urea during the infancy period, and with self-regulated precautions on fluid intake into adult life.
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