A case of nephrogenic syndrome of inappropriate antidiuresis caused by a mutation of the vasopressin type 2 receptor
https://doi.org/10.14341/probl2017632106-109
Abstract
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked disorder of water balance, which was first described in two unrelated male infants with severe symptomatic hyponatremia. NSIAD is caused by activating mutations of the arginine vasopressin receptor 2 (AVPR2) gene, resulting in impaired reabsorption of free water, which leads to increased osmolarity of urine, plasma hypo-osmolarity, and persistent hyponatremia. We report, for the first time in the domestic literature, a case of isolated euvolemic hyposmolality hyponatremia in a child with oligodipsia. Because hypocorticism and renal pathology were excluded, and there was no antidiuretic hormone hypersecretion, NSIAD was suggested. A molecular genetic study revealed a new mutation L312S, not described earlier, in the seventh transmembrane domain of the AVPR2 gene. Pathogenicity of the mutation was proved by a functional study. We provide the clinical and laboratory characteristics of SIAD and the main principles of treatment. This disease should be considered in the differential diagnosis of hyponatremia syndrome.
About the Authors
Nadezhda V. MakazanEndocrinology Research Centre
Russian Federation
MD, PhD student
Natalia A. Zubkova
Endocrinology Research Centre
Russian Federation
MD, PhD
Anatolyi N. Tiulpakov
Endocrinology Research Centre
Russian Federation
MD, PhD
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Review
For citations:
Makazan N.V., Zubkova N.A., Tiulpakov A.N. A case of nephrogenic syndrome of inappropriate antidiuresis caused by a mutation of the vasopressin type 2 receptor. Problems of Endocrinology. 2017;63(2):106-109. https://doi.org/10.14341/probl2017632106-109
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