Autosomal dominant polycystic kidney disease


What are the first steps after an initial diagnosis of autosomal dominant polycystic kidney disease?

After a diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is confirmed, families should seek a medical consultation with a physician with experience in the disorder. The PKD Foundation may be able to direct patients to physicians who understand and treat the disorder. The Foundation has 60 volunteer-run chapters throughout the United States. After a diagnosis of ADPKD is made, people will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

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Is there a cure for autosomal dominant polycystic kidney disease?

Is treatment of autosomal dominant polycystic kidney disease different in children?

Is there a cure for autosomal dominant polycystic kidney disease?

There is no cure for autosomal dominant polycystic kidney disease (ADPKD). The severity of the disorder can be very different in one person when compared to another person. Some people do not develop any symptoms throughout their life, while others can have severe, even life-threatening complications. Treatment is aimed at the specific symptoms of the condition. ADPKD primarily affects the kidneys and the liver, but can potentially affect almost any organ system of the body.

Controlling blood pressure is extremely important in ADPKD. High blood pressure is treated with medications called angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARB). These medications also help to preserve kidney function. To help to control blood pressure, some physicians may also recommend changes to a person's diet and exercise. Some individuals can control their blood pressure through these lifestyle changes alone.

Pain can be treated with pain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs). Some of these medications can be toxic to the kidneys with long-term use, so they should be used sparingly and not for long. Tricyclic antidepressants are drugs that can help treat pain and have been effective in people with ADPKD. Narcotic pain medications can be used for severe pain under the close supervision of a physician. Severe pain and can also be treated by surgical procedures that remove cysts or diseased portions of the kidneys. Pain from a ruptured cyst in the kidney can sometimes be treated with pain medications, bed rest, and drinking extra fluids.

If cysts become infected, physician will prescribe antibiotics. However, antibiotics cannot always effectively treat the infection. Physicians may recommend percutaneous aspiration. This procedure involves passing a needle through the skin to be directly injected into a cyst to drain the cyst of fluid. Percutaneous aspiration can also be used to reduce the number of cysts in the kidneys or liver, thereby reducing the size of these organs. Sometimes, physicians will inject a solution called a sclerosing agent into the cysts to cause scarring and prevent fluid from filling up in the cyst again.

In the European Union and many other countries, a drug called tolvaptan (Samsca® or Jinarc®) has been approved to treat certain individuals with ADPKD. This drug has been approved in the United States under the name Jynarque®. The drug has been shown to reduce kidney volume and slow kidney decline. However, it has been shown to have the possible side-effect of liver disease. As with any drug, there are risks of side effects. Patients should discuss the benefits and risks of any treatment with their physicians.

Despite treatment, some people with ADPKD will have continued deterioration of kidney function. Eventually, the kidneys will not be able to adequately perform their normal functions, including removing waste products from the blood. This is called kidney failure. At this point, people will need to go on dialysis and eventually need a kidney transplant.

Urinary tract infections should be treated promptly, usually with antibiotics. The treatment of kidney stones in people with ADPKD is no different from treatment in people with kidney stones who don't have the disorder. Some people may have inflammation of the pancreas, a serious and painful condition that can require hospitalization and treatment with antibiotics and intravenous fluids.

If a patient has an intracranial aneurysm, they should have regular checkups to see whether the aneurysm grows bigger. Small aneurysms rarely require surgery. Surgery to "clip" an aneurysm is performed if the aneurysm is more than 10mm in diameter. A physician will place a small clip at the base of the aneurysm where it bulges out from the blood vessel wall. This will prevent blood from flowing into the aneurysm.

A medical team with several different physicians is required to adequately treat people with ADPKD. The treatment will depend on a person's individual symptoms and can be very different. People with ADPKD should talk to their doctors and entire medical team about their symptoms and possible treatment options.

Is treatment of autosomal dominant polycystic kidney disease different in children?

Some children with autosomal dominant polycystic kidney disease (ADPKD) have been treated with a drug called pravastatin that has shown some ability to slow the progression of the disorder. This drug is not approved for the treatment of children with ADPKD. Some doctors advise that nonsteroidal anti-inflammatory drugs (NSAIDs) not be given to children with ADPKD because they can increase the risk of cysts bleeding (hemorrhaging). Children with a history of ADPKD in the family should receive regular checkups to monitor their blood pressure.

  • Torres VE, Chapman AB, Devuyst O, et al. Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease. N Engl J Med. 2012;367:2407-2418.
  • Chapman AB, Rahbari-Oskoui FF, Bennett W. Course and treatment of autosomal dominant polycystic kidney disease. UpToDate website.
  • Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. GeneReviews website. Accessed Jan 20, 2017.

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