Autosomal Dominant Polycystic Kidney Disease is a genetic disease affecting an estimated 1 in 400-1000 people. It is the 4th leading cause of kidney failure in the United States. ADPKD causes cysts to form in the patient’s kidneys, replacing healthy kidney tissue with fluid filled cysts. Eventually, these cysts replace all of the kidney tissue, causing kidney failure. Over half of the people with ADPKD will develop failure by the age of 50. These patients will require dialysis or a kidney transplant.
ADPKD is a genetic disease and is caused by the mutation of the PKD1 or PKD2 gene. It is a dominant mutation, so if you have it, your children will have a 50% chance of inheriting the disease from you.
One of the concerning features of ADPKD is that for years, patients have no symptoms at all. Even routine blood tests performed by their doctors may not show the disease. As the disease silently progresses, it can cause irreversible damage to the kidneys. Eventually the patient will start to see noticeable symptoms, like high blood pressure, blood in their urine, a feeling of heaviness, bloating or pain in the abdomen and/or back, frequent UTI’s and kidney stones.
Though the disease mainly affects the kidneys, there are also related health complications that can arise. ADPKD affects multiple other organ systems. Cysts may occur on the kidneys. A condition called Mitral Valve Prolapse may occur, where the valve in the left side of the heart does not function properly, causing back leakage of blood into the heart. Brain aneurysms develop in 5-10% of patients with ADPKD. Hernias are also more common. Diverticulosis, outpouchings of the large intestine that can become infected, are also common.
Previously, treatment for ADPKD were very limited. ACE-inhibitors (a class of blood pressure medications) were used to treat the disease. Patients were encouraged to drink a lot of water, avoid caffeine and avoid nicotine. Despite the interventions, the disease tended to progress.
The good news is that there have been recent developments in the treatment of ADPKD. A new medication was recentlyapproved to treat ADPKD that has been shown to slow cyst formation and preserve healthy kidney tissue. The medication requires close monitoring by a neurologist. ThoughADPKD is not a curable disease, the outlookcan be good for patients that are on this new medication, Jynarque. It can slow the progression of the disease, preserve renal function and avoid/prolong the time to dialysis.
Through Washington Health System, Dr. Dopson and I have established the first ADPKD clinic in the area. We focus on the treatment of the disease as well as pharmacologic and nonpharmacological management of ADPKD and provide information for patients and their families.
If you need more information please call (724) 228-1303 or visit whs.org/ADPKD.
Article written by Christopher Gisler, MD of Washington Health System Nephrology.
This sponsored article is brought to you by the Washington Health System.