FRIDAY, Jan. 13, 2006 (HealthDay News) -- Researchers say they've identified a gene associated with a rare inherited kidney disorder that usually kills infants soon after birth.
The disease, called Meckel-Gruber syndrome (MKS), causes central nervous system deformities and abnormal cysts in the kidneys.
The finding, published in the current issue of Nature Genetics, is the result of an international effort led by researchers at the Mayo Clinic.
Identification of this gene means that families with a history of MKS can now have blood tests to be screened for this defect and seek genetic counseling. The study also advances knowledge about related disorders such as more common forms of polycystic kidney disease (PKD), which accounts for more than 5 percent of end-stage kidney disease in the United States and Europe.
"This gene has immediate relevance for a small number of families, but the broader implications are important for the understanding they bring of how cysts develop in the kidney," research team leader Peter Harris, a Mayo Clinic nephrology researcher, said in a prepared statement.
"There is a kind of common linkage among these diseases. Our hope is that this new finding will aid us to devise new treatments for a broad category of disabling disease," Harris said.
More information
The U.S. National Library of Medicine has more about polycystic kidney disease.
