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 3 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.


Last Editorial Review: 7/8/2004