Researchers discover gene causing deadly infantile form of genetic kidney disease

Identification of gene PKHD1 brings hope of cure to sufferers of autosomal recessive polycystic kidney disease

Kansas City, Mo. (February 6, 2002) Researchers at the Mayo Clinic have identified and fully characterized the gene that causes autosomal recessive polycystic kidney disease (ARPKD), raising hopes of a treatment and eventual cure for infants born with ARPKD. The Polycystic Kidney Disease (PKD) Foundation provided grants that led to the promising discovery of the PKHD1 gene, an effort aided by earlier work done at the Human Genome Project. The March 2002 issue of Nature Genetics will feature this breakthrough.

ARPKD is one of a group of polycystic kidney diseases that together make up the worlds most common life-threatening genetic disease, affecting 600,000 children and adults in the United States and 12.5 million people worldwide. In the U.S., more people have PKD than the combined number of those who have cystic fibrosis, muscular dystrophy, Downs syndrome, hemophilia, sickle cell anemia and Huntingtons disease. The disease affects people equally irrespective of age, race, gender, ethnicity, geographic location or socioeconomic status.

ARPKD, often referred to as infantile PKD, is a particularly lethal form of PKD resulting in the development of multiple fluid-filled cysts in the kidney and fibrosis in the liver. The disease is often associated with poor lung development and infant death. There is currently no treatment or cure for ARPKD, but the discovery of the ARPKD gene now provides researchers with a genetic road map for a functional understanding of how PKD progresses, and paves the way for gene testing, more conclusive diagnosis, and treatments to retard development of the disease.

Identifying the causative gene is a major step forward as the basic defect and progression of the disease can now be studied, said Peter C. Harris, Ph.D., of the Mayo Clinic and the lead researcher in the study. The

Contact: Jim Guarnera
Hill and Knowlton

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