Polycystic Kidney Disease Gene Isolated

New York--A gene for autosomal dominant polycystic kidney disease (ADPKD) was recently isolated by an international team of scientists from the United States and Cyprus. Scientists have continued to search for the autosomal recessive PKD gene. By 1995, they knew that a gene responsible for at least some cases of autosomal recessive PKD resides on chromosome 6.

ADPKD is an inherited disease that results in the formation of fluid-filled sacs (cysts) within the kidney. It can cause back pain, blood in the urine, and leads to kidney failure, requiring dialysis, in 45 % of affected individuals by 60 years of age. ADPKD affects 1 in 1,000 people.

ADPKD is diagnosed by soundwave testing (ultrasound), radioactive scanning, or x-ray dye testing (intravenous pyelography or IVP). Treatment is aimed at complications, such as high blood pressure, pain, or infection of the cysts. The disease itself has no cure.

In a recent study published in the journal Science (1996;272:1339-42), Toshio Mochizuki and associates reported their identification of the gene that accounts for one of the two types of ADPKD.

The discovery of the gene for polycystic kidney disease is a major step toward treatments that are directed at stopping this progressive illness.