Jim Plante, the founder of Pathway Genomics and Klotho Therapeutics, has a personal reason for being concerned about polycystic kidney disease, or PKD. This genetic disorder runs in his family, and he himself has been diagnosed with it. A primary focus for Klotho Therapeutics is to use a human protein that functions as a hormone to delay or entirely prevent the development of this disorder.
The genetic mutation causes cysts to form in the kidneys, limiting their ability to filter waste from the blood effectively. The cysts are not cancerous, but they interfere with kidney function and may eventually cause kidney failure. About 50 percent of patients with PKD experience kidney failure by their senior years. People with chronic renal failure must have regular dialysis treatments or a kidney transplant to survive. Cysts sometimes begin developing in other organs too—most frequently the liver.
Rarely, a patient is diagnosed with PKD although there is no family history of the disease. But, about 95 percent of the patients have a mother or father with PKD. Some cysts may be present at birth, but for most people, the problem does not begin causing problems until the age of 30 or older.
Before it became apparent that PKD is inherited and genetic testing became prevalent for these families, people typically were not diagnosed until they experienced symptoms that led them to seek medical attention. Lower back or side pain, a bloated abdomen, kidney stones, urinary tract infections, and blood in the urine all are symptoms. High blood pressure is common in people with PKD. Researchers assume that large numbers of people were never diagnosed, since not all men and women with PKD experience kidney failure.
Keeping Kidneys Functional
Currently, no treatment or cure for the disease is available, but people diagnosed with PKD can take steps to keep their kidneys as healthy as possible. That helps them function more effectively even if they contain cysts. Drinking lots of water or other fluids without caffeine or alcohol is one of the best strategies. These individuals should not smoke tobacco and are encouraged to limit salt intake. Maintaining an ideal weight is important, and keeping blood pressure in check is imperative.