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Genetic discovery could dramatically reduce need for liver transplants in children

CINCINNATI A new study published in the Journal of Clinical Investigation opens the door to the possibility of new treatments for children who suffer from biliary atresia, a deadly disease of infancy and the most common reason for liver transplantation in children. The new treatments could dramatically reduce the number of liver transplants performed on children every year.

Jorge Bezerra, M.D., a physician/researcher in the Division of Gastroenterology, Hepatology and Nutrition at Cincinnati Children's Hospital Medical Center, and research colleagues at Cincinnati Children's, discovered that in the early phases of biliary atresia, inflammatory genes are activated and control the obstruction of bile ducts in mice. The discovery "substantiates our initial observation in humans and opens the door for the future development of agents to control inflammation and progression of disease," Dr. Bezerra said.

Biliary atresia occurs in infants and usually becomes evident two to eight weeks after birth. Its cause has been unknown. Symptoms include unexplained jaundice, dark urine, clay-colored stools and weight loss. The disease destroys bile ducts in the liver, trapping bile, rapidly causing damage to liver cells and severe scarring.

Biliary atresia accounts for up to 50 percent of children who undergo liver transplantation. Although a surgical procedure is successful in many infants, three of every four children who have biliary atresia need a liver transplant before the age of 20. The total annual cost, including transplant care, of treating all infants with biliary atresia is estimated to be $65 million.

In a previous study published in The Lancet, Dr. Bezerra obtained biopsies of livers of 14 infants with biliary atresia. Using gene chip technology, he and the Cincinnati Children's research team discovered that in the early phases of biliary atresia, inflammatory genes are activated and immunoglobulin genes are suppressed, pointing
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Contact: Jim Feuer
jim.feuer@cchmc.org
513-636-4656
Cincinnati Children's Hospital Medical Center
2-Aug-2004


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