"About one year ago, we identified a genetic mutation causing gout and kidney failure in four different families," said Anthony J. Bleyer, M.D., associate professor of internal medicine - nephrology at Wake Forest University Baptist Medical Center. "Since then, we have been contacted by physicians around the country and have identified additional families suffering from this disease." In these families, gout develops in the teenage years and in the early 20s. Kidney failure begins around that time and progresses to end-stage kidney disease and dialysis in the 40s or 50s.
"We know that there are other families and family members out there suffering from this disease," Bleyer said. "We are hoping to find these individuals, as we now have genetic testing available." They also hope to find a treatment. Bleyer presented the findings at a session on new developments in clinical hereditary disease.
Since the team at Wake Forest and the University of Pittsburgh reported discovery of the gene in last December's Journal of Medical Genetics, 13 other families have been discovered at other medical centers. Family members have a mutation in a gene that ordinarily produces a protein called either uromodulin or Tamm-Horsfall protein. Uromodulin is the most common protein released into the urine, but its function is unclear.
"We need to find the people who have this disease and don't know it," Bleyer said. Even in those families they are tracking, the researchers haven't found all the family members. For instance, Bleyer said one Kansas family he is studying has relatives "somewhere in the Southeast, but no one has been able to locate them." Another family knows there are relatives in Georgia, but does not have precise information.
So Bleyer is trying to get the word out to fellow nephrologists, to other physicians and the general public to look for the disease in people with gout.
Bleyer is also hoping that the discovery will lead to intensive research on how the defective gene leads to kidney failure, which isn't clear now. "We are hoping that this will lead to improved treatment."
He said that the Wake Forest team already has uncovered the disease in more than 40 members of a Western North Carolina family – the initial group that has been traced back to 1785. The team has studied the family for more than six years.
"We are currently interested in studying individuals who developed gout before age 20, in those with severe gout, and in those who have a strong family history of gout, with gout both in a parent and child," he said. "We would like these individuals to call us at 336-716-4513."
Wake Forest University Baptist Medical Center is an academic health center including Wake Forest University School of Medicine and N.C. Baptist Hospital.
Media Contacts: Robert Conn (rconn@wfubmc.edu), Karen Richardson (rchrdsn@wfubmc.edu) or Shannon Koontz (shkoontz@wfubmc.edu) at 336-716-4587.