New Genetic Disease Causes Water Retention
Posted on: Wednesday, 4 May 2005, 18:00 CDT
U.S. pediatricians Wednesday said two infant boys with water retention problems have led to the discovery of a new genetic disease.
The new disease, called Nephrogenic Syndrome of Inappropriate Antiduresis or NSIAD, is due to a mutation in a single gene and causes the body to abnormally retain water, pediatricians from the University of California in San Francisco reported in the May 5 issue of The New England Journal of Medicine.
Although NSIAD has only been diagnosed in two infants so far, it may not be rare, the pediatricians said. Water retention is a common problem and some cases of the disorder may have a genetic cause.
In addition, after this research was presented at an international meeting last September, several physicians in the audience said they were considering whether some of their infant patients might be suffering from the disorder.
NSIAD is caused by a mutation in the gene AVPR2, which encodes for a cellular receptor for vasopressin, a hormone that plays a role in regulating the retention of water by the kidneys.
Source: United Press International
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