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GTR Home > Conditions/Phenotypes > Nephrogenic syndrome of inappropriate antidiuresis

Summary

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005). [from OMIM]

Available tests

17 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: ADHR, DI1, DIR, DIR3, NDI, NDI1, V2R, AVPR2
    Summary: arginine vasopressin receptor 2

Clinical features

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