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Mutation in renin gene linked to inherited kidney disease
Date:8/18/2009

ase. Bleyer works with about 100 families throughout the world to identify the causes of inherited kidney disease that run in their families.

Families identified with the specific genetic mutation investigated in this study suffer from anemia in childhood and progressive kidney disease resulting in the need for dialysis, a mechanical way to cleanse the blood. Children typically have relatively low blood pressure. Adults suffer from gout and worsening kidney disease.

"There are many families with inherited kidney disease that do not know the cause and may suffer from this condition," Bleyer said. "We are interested in helping these families identify the cause of kidney disease that runs in their family."

The investigators have identified a potential treatment for the disease, and a clinical trial is under way at Wake Forest University School of Medicine, Bleyer said.

Understanding how the mutation in the renin gene affects these families also provides insight into how renin works in healthy individuals. For example, the low levels of renin in children with this condition appear to cause anemia. The importance of renin in maintaining a normal blood count and preventing anemia in childhood was not previously known. The researchers plan to continue researching renin with hopes of better understanding how the protein functions in health and disease.

The research was conducted by physicians and researchers from the Czech Republic, Belgium, France, Germany and the United States.


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Contact: Annette Porter
aporter@wfubmc.edu
336-716-2416
Wake Forest University Baptist Medical Center
Source:Eurekalert

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