Autosomal dominant polycystic kidney disease (ADPKD) is a chronic condition that causes cysts to grow in the kidneys. It’s the most common genetic kidney disorder.

This condition is sometimes called “adult PKD” because people with ADPKD typically receive their diagnosis between the age of 30 and 50, when signs and symptoms start to appear.

The National Institute of Diabetes and Digestive and Kidney Diseases reports that it affects an estimated 1 in 400 to 1,000 people.

Up to 1 in 4 people with ADPKD develops the condition without having a known family history. This can be because family members were never diagnosed, or they died before their symptoms were recognized. It can also be due to lack of parental medical records, adoption, or estrangement.

People can also develop ADPKD with no or unknown family history. In a 2017 study of ADPKD, 15.3% of the people developed the condition spontaneously and without a clear cause.

A person who develops ADPKD spontaneously can pass the mutated gene on to their children in the same way as someone who’s inherited it from a parent.

ADPKD can cause a variety of symptoms, including:

  • headache
  • pain in your back
  • pain in your sides
  • blood in your urine
  • increased stomach size
  • a sense of fullness in your stomach

Symptoms often develop in adulthood, between ages 30 and 40 years old, although they may also appear at more advanced ages. In some cases, symptoms appear in childhood or adolescence.

The symptoms of this condition tend to get worse over time.

There’s no known cure for ADPKD. However, treatments are available to help manage the disease and its potential complications.

To help slow the development of ADPKD, your doctor may prescribe tolvaptan (Jynarque).

It’s the only medication that the Food and Drug Administration (FDA) has approved specifically to treat ADPKD. This medication may help delay or prevent kidney failure.

Depending on your specific condition and treatment needs, your doctor may also add one or more of the following to your treatment plan:

  • lifestyle changes to help lower blood pressure and promote kidney health
  • medication to help reduce blood pressure, relieve pain, or treat infections that may occur in the kidneys, urinary tract, or other areas
  • surgery to remove cysts that are causing serious pain
  • drinking water throughout the day and avoiding caffeine to slow the growth of cysts (researchers are studying how hydration affects ADPKD)
  • eating smaller portions of high quality protein
  • limiting salt, or sodium, in your diet
  • avoiding too much potassium and phosphorous in your diet
  • limiting alcohol consumption

Managing ADPKD and sticking with your treatment plan can be challenging, but it’s vital for slowing the progression of the disease.

If your doctor prescribes tolvaptan (Jynarque), you’ll need to have regular tests to assess the health of your liver because the medication can cause liver damage.

Your doctor will also closely monitor the health of your kidneys to see whether the condition is stable or progressing.

If you develop kidney failure, you’ll need to receive dialysis or a kidney transplant to compensate for the loss of kidney function.

Talk with your doctor to learn more about your treatment options, including the potential benefits, risks, and costs of different treatment approaches.

Side effects of treatment for ADPKD

Most of the medications that your doctor may consider to help treat or manage ADPKD carry some risk of side effects.

For example, Jynarque may cause excessive thirst, frequent urination, and in some cases, serious liver damage. There have been reports of acute liver failure requiring liver transplantation in individuals taking Jynarque.

Other treatments that target specific symptoms of ADPKD may also cause side effects. To learn more about the potential side effects of different treatments, talk with your doctor.

If you think you may have developed side effects from treatment, let your doctor know right away. They may recommend changes to your treatment plan.

Your doctor is also likely to order routine tests while you’re undergoing certain treatments to check for signs of liver damage or other side effects.

Polycystic kidney disease (PKD) is a genetic disorder.

DNA testing is available, and there are two different types of tests:

  • Gene linkage testing: This test analyzes certain markers in the DNA of family members who have PKD. It requires blood samples from you as well as several family members who are affected and unaffected by PKD.
  • Direct mutation analysis/DNA sequencing: This test requires only a single sample from you. It directly analyzes the DNA of the PKD genes.

To diagnose ADPKD, your doctor will ask you about:

  • your symptoms
  • personal medical history
  • family medical history

They may order an ultrasound or other imaging tests to check for cysts and other potential causes of your symptoms.

They may also order genetic testing to learn if you have a genetic mutation that causes ADPKD. If you have the affected gene and also have children, they may encourage them to get genetic testing as well.

ADPKD is an inheritable genetic condition.

In most cases, it results from a mutation of either the PKD1 or PKD2 genes.

To develop ADPKD, a person must have one copy of the affected gene. They typically inherit the affected gene from one of their parents, but in rare cases, the genetic mutation may occur spontaneously.

If you have ADPKD and your partner doesn’t have it and you decide to start a family together, your children would have a 50% chance of developing the disease.

The condition also puts you at risk for complications, such as:

  • high blood pressure
  • urinary tract infections
  • cysts on your liver or pancreas
  • abnormal heart valves
  • brain aneurysm
  • kidney failure

Your life expectancy and outlook with ADPKD depend on several factors, including:

  • the specific genetic mutation that’s causing ADPKD
  • any complications that you develop
  • treatments that you receive and how closely you stick to your treatment plan
  • your overall health and lifestyle

Talk with your doctor to learn more about your condition and outlook. When ADPKD is diagnosed early and managed effectively, people are more likely to be able to maintain full, active lives.

For example, many people with ADPKD who are still working when they’re diagnosed are able to continue their careers.

Practicing healthy habits and following your doctor’s recommended treatment plan may help prevent complications and keep your kidneys healthier for longer.