Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common life-threatening genetic diseases, affecting approximately 1 in 400 to 1 in 1,000. It does not skip a generation. There is usually a family history of the disease and parents with ADPKD have a 50 percent chance of passing the disease on to each of their children.

ADPKD is passed from one generation to the next by an affected parent. An ADPKD parent has a 50 percent chance of passing the PKD mutation to each of his/her children at conception. Scientists have also discovered that approximately 10 to 20 percent of the PKD patient community became affected through spontaneous mutation.

Early in the disease, patients often experience no symptoms. In fact, many people don’t realize they have ADPKD because they have so few, if any symptoms. Once symptoms develop, they include: 

• High blood pressure or hypertension 
• Chronic pain or heaviness 
• Hematuria or blood in the urine
• Urinary tract infection (UTI)
• Kidney stones 

A cyst in the kidney begins as an out-pouching of the nephron (functional unit of the kidney) and can occur anywhere along the length of the nephron. Approximately 70 percent of cysts detach from the nephron when they are still small, about 2 mm (1/8 inch) in diameter. Over time, the cysts enlarge and can become filled with clear fluid or fluid that contains blood or white blood cells.

Cysts can form in other organs, as well as the kidney; the most common extrarenal site is the liver. Current research suggests that liver cysts form from cells lining the bile ducts or tubules of the liver, rather than the liver cells themselves. It appears that rather than take the place of functioning liver cells, cysts merely push the liver cells aside. This is why liver cysts don’t cause liver failure even though the liver can become quite enlarged due to cysts.

The kidneys are bean-shaped and about the size of a fist, located in the middle of the back, below the rib cage. They filter approximately 200 quarts of blood daily, reabsorb 98 percent of the filtrate and regulate the composition of the blood by removing waste and by other compounds.

In addition to kidney problems, other organs can be affected, including the liver, spleen, pancreas, vasculature, testes, seminal vesicles and intestines.

• A large percentage of people with ADPKD will develop liver cysts during their lifetime.
• Cardiovascular complications include high blood pressure, cerebral aneurysms and mitral valve prolapse (MVP), a condition where the valve separating the top and the bottom of the left side of the heart does not close properly. Sometimes this causes blood to leak back to the top part of the heart. This is called regurgitation and can be heard as a heart murmur.
• People with ADPKD have about a 5 to 10 percent risk of developing intracranial aneurysms and the percentage is higher if there is a family history of aneurysms.
• Gastrointestinal complications of ADPKD include diverticulosis caused by diverticula, out-pouchings of the large intestine (colon).

If you have ADPKD, you and your family should be aware of these comorbidities:

• Liver cysts
• Mitral valve prolapse (MVP)
• Intracranial aneurysms
• Hernias
• Diverticulosis

Currently, there are three main clinical tests that can be used to diagnose a person with PKD: ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI).

Both cancer and PKD involve unregulated cell growth but there is no proven connection between the two diseases.

The severity of the kidney disease caused by the ADPKD1 and ADPKD2 genes is slightly different. With the ADPKD1 gene, cyst development, the onset of high blood pressure and loss of kidney function appear earlier as compared to the ADPKD2 gene. A genetic test is the only way to tell which PKD gene an individual carries.

Finding the right nephrologist can make a positive difference in both your treatment plan and quality of life. When looking for the right specialist or clinic, here are some questions you should consider asking:

• Does your clinic primarily treat ADPKD and/or ARPKD patients?
• Is a pediatric nephrologist available?
• Do you offer any other services (such as diagnostic services or disease management)?
• Is genetic counseling an option?
• Is nutrition counseling available?
• Do you offer dialysis services?
• Are transplant services available? For children as well?
• How many transplants are performed each year?
• Does your clinic have access to clinical trials for those living with PKD? If so, which ones?
• Do you have access to other medical specialties, like hypertension or hepatology?
• How often should I get brain scans?

The frequency of check-ups varies for each individual depending on the degree of kidney dysfunction, so check with your physician for their recommendation.