Clues to Acquired Renal Failure Discovered in Rare Childhood Disease

Newswise — Researchers at the Technion-Israel Institute of Technology have recently deciphered the genetic cause of a rare and serious inherited childhood skin disease called familial tumoral calcinosis (FTC). The findings, which have important implications for chronic renal failure patients, will be published in the June 2004 Nature Genetics.

Patients affected with FTC develop, during the first decade of their lives, large, recurrent and painful calcified masses in and under the skin. The masses, which can weigh more than 2 lbs., affect joint movement, cause skin infections and involve the need for repeated surgeries.

The researchers found that the patients they studied carry a genetic mutation in the GALNT3 gene. The mutation causes an increase in the level of phosphate in the blood, which together with calcium, is deposited as masses under the skin.

The disease is similar in many aspects to acquired renal failure, in which high phosphate levels cause calcium deposits.

"The identification of the GALNT3 familial tumoral calcinosis gene may shed new light on the mechanisms regulating phosphate metabolism in health and disease," notes lead researcher Dr. Eli Sprecher of the Technion Faculty of Medicine and the Dermatology Department of Rambam Medical Center in Haifa. "There are some obvious implications for acquired renal failure manifested with calcinosis caused by high phosphate levels."

According to Sprecher, the next step for the researchers will be to develop new strategies aimed at reducing phosphate levels in those affected by such diseases as FTC and acquired renal failure.

Contributing to the research was Ph.D. student Orit Topaz, under the direction of Dr. Sprecher and Prof. Reuven Bergman of Rambam Medical Center, as well as Dr. Gabriele Richard of Thomas Jefferson University in Philadelphia, Pennsylvania.

The Technion-Israel Institute of Technology is Israel's leading science and technology university. It commands a worldwide reputation for its pioneering work in computer science, biotechnology, water-resource management, materials engineering, aerospace and medicine. The majority of the founders and managers of Israel's high-tech companies are alumni. Based in New York City, the American Technion Society is the leading American organization supporting higher education in Israel, with more than 20,000 supporters and 17 offices around the country.