FRIDAY, Aug. 21, 2009 (HealthDay News) -- A genetic mutation associated with inherited kidney disease has been pinpointed by an international team of researchers, who also identified a potential treatment that's currently being tested in a clinical trial.
The mutation occurs in the gene that encodes the protein renin, which plays an important role in blood pressure regulation. People with this genetic mutation suffer from anemia in childhood and progressive kidney disease, resulting in the need for dialysis, the researchers noted.
The study appears in the Aug. 14 issue of the American Journal of Human Genetics.
"There are many families with inherited kidney disease that do not know the cause and may suffer from this condition. We are interested in helping these families identify the cause of kidney disease that runs in their family," co-investigator Dr. Anthony Bleyer, a professor of internal medicine-nephrology at Wake Forest University School of Medicine, said in a university news release.
Learning more about how the renin gene mutation affects families with inherited kidney disease will also help researchers better understand how renin works in healthy people. For example, this study revealed that renin plays an important role in maintaining a normal blood count and preventing anemia in children.
More information
The U.S. National Kidney Foundation has more about chronic kidney disease.
