Discovery Of New Genetic Disease Sheds Light On Body’s Water Balance

A change in one codon changes the V2 receptor and blocks urination; a different substitution in the same amino acid causes a different genetic disease. Two infant boys whose bodies were overloaded with excess fluid have led UCSF pediatricians to the discovery of a new genetic disease. The new disorder, called Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD), is described in the March 24 issue of The New England Journal of Medicine.

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