What is Autosomal Dominant Polycystic Kidney Disease?

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of polycystic kidney disease (PKD), an inherited kidney disorder. It affects about 600,000 individuals in the United States and 12 million worldwide. ADPKD accounts for six to eight percent of patients on dialysis in the United States. It does not discriminate based on gender, race, ethnicity, or geography.

ADPKD is characterized by enlarged kidneys that contain many cysts, or fluid-filled sacs. These cysts grow in size and in number over years, leading to kidney failure in about half of ADPKD patients. People with a family history of ADPKD as well as younger people who develop high blood pressure (hypertension) may be diagnosed with ADPKD. Medical evaluation consists of blood and urine tests, ultrasound or kidney MRI, and sometimes genetic testing.

At Mount Sinai, our medical experts are specialists in the diagnosis, management, and treatment of ADPKD. Although no non-surgical cure currently exists for this disease, we aggressively treat many problems of ADPKD-related chronic kidney disease, including anemia, high blood pressure (hypertension), bone health, and cardiovascular complications. We work closely with our transplant team to appropriately direct ADPKD to transplant as necessary. Mount Sinai is a leading kidney transplant center in New York City. Our Recanati/Miller Transplantation Institute surgeons and physicians, along with specialized nurses and social workers, coordinate the complex care of a patient both before and after kidney transplantation.

Currently, there is no established treatment for ADPKD. The only available treatment for kidney failure from ADPKD is dialysis and the available cure is kidney transplantation. Nevertheless, a number of studies of possible treatments for ADPKD have been published recently, and promising clinical trials are underway.

Bringing new therapies to light

Researchers at Mount Sinai School of Medicine are hard at work elucidating the causes and risks for progression of ADPKD. We have one of the nation's leading investigative laboratories, where important research occurs at the cutting-edge of science to evolve potential ADPKD therapeutics. This work is funded by major research organizations in the United States, such as the National Institutes of Health. The pace of development of new potential therapies for ADPKD raises the hope for a pending modification of its downhill clinical course.

We provide access to important clinical trials. We also work closely with the PKD Foundation's New York chapter and participate in annual conferences on PKD and the Walk for PKD.

We can help

If you would like more information or would like to schedule an appointment, please call The Mount Sinai Medical Center at 212-241-2377.