Autosomal dominant polycystic kidney disease

Living with

What is the average life expectancy for someone with autosomal dominant polycystic kidney disease?

Autosomal dominant polycystic kidney disease (ADPKD) can be very different in one person compared to another. It is difficult to make predictions about how the disease will progress. Some people never develop symptoms or only have mild symptoms. There are several factors that determine how severe ADPKD may be including how delayed the diagnosis was and the extent of kidney disease. Most people retain kidney function into their 30s. The rate of progression of kidney decline varies greatly. Some people retain adequate kidney function until very late in life. Risk factors for kidney decline include having a change in the PKD1 gene, younger age of onset of the disorder, increased kidney size, and hypertension. Men and boys are at a greater risk of progressive kidney disease as well. If heart or neurological disease is present, they can cause life-threatening complications.

Talk to your doctor and entire medical team about you or your child's diagnosis and individual prognosis.

References
Show More Content Like This

More Living with Content

Will everyone who has a gene change causing autosomal dominant polycystic kidney disease develop symptoms?

Where can caregivers of people with autosomal dominant polycystic kidney disease get support?

If my child didn't get autosomal dominant polycystic kidney disease from one of their parents, why is it called a genetic disorder?

Where can I get financial help for autosomal dominant polycystic kidney disease?

When do I tell my child that they have autosomal dominant polycystic kidney disease?

I have autosomal dominant polycystic kidney disease, should I have my child tested?

Is autosomal dominant polycystic kidney disease acquired?

Is diet and nutrition important in autosomal dominant polycystic kidney disease?

Are there certain sports or other activities that people with autosomal dominant polycystic kidney disease should avoid?

How do children with autosomal dominant polycystic kidney disease do in school?

How do children with autosomal dominant polycystic kidney disease go from pediatric care to adult care?

Can someone with autosomal dominant polycystic kidney disease get pregnant?

Should people with autosomal dominant polycystic kidney disease drink more water?

Why do some people develop symptoms of autosomal dominant polycystic kidney disease in childhood?

Do people with autosomal dominant polycystic kidney disease have a greater risk of developing cancer?

Do people with autosomal dominant polycystic kidney disease also get polycystic liver disease?

Do people with autosomal dominant polycystic kidney disease also get cysts in their pancreas?

Does autosomal dominant polycystic kidney disease cause infertility?

Are there any drugs that people with autosomal dominant polycystic kidney disease should avoid?

Will everyone who has a gene change causing autosomal dominant polycystic kidney disease develop symptoms?

Researchers believe that virtually all people with a change in the PKD1 or PKD2 genes will develop cysts on their kidneys, the hallmark finding of autosomal dominant polycystic kidney disease. This is close to complete penetrance. Penetrance is the proportion of people with a disease-causing change (mutation) in one of the two genes known to cause the disorder who eventually develop symptoms. Complete penetrance means that 100% of the people who have a gene change will develop symptoms. However, the symptoms that do develop can be very different among individuals with this disorder. And, when those symptoms first occur can be very different as well. Some people may not develop symptoms until older age. This is called variable expressivity.

References
Where can caregivers of people with autosomal dominant polycystic kidney disease get support?

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with autosomal dominant polycystic kidney disease (ADPKD), particularly those people with progressive kidney decline or other serious complications. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for ADPKD include the PKD Foundation.

References
If my child didn't get autosomal dominant polycystic kidney disease from one of their parents, why is it called a genetic disorder?

If a parent doesn't pass on a disease, why do the children have it is a very common question about a lot of genetic disorders. Autosomal dominant polycystic kidney disease (ADPKD) is called a genetic disorder because we know it is caused by a change or mistake in the body's genetic instructions. Most people with ADPKD have a gene change affecting either the PKD1 or the PKD2 gene. Most people with inherit the disorder from one of their parents. However, just because a disorder has a genetic cause that does not mean that the disorder is inherited. Sometimes mutations, or gene changes, are passed through families. However, other times mutations can also happen at random. A small percentage of people do not inherit the disorder. The gene change that affects them happens randomly for no known reason. Talk to a genetic counselor to learn more about the genetics of ADPKD. 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.

References
Where can I get financial help for autosomal dominant polycystic kidney disease?

The medical cost of autosomal dominant polycystic kidney disease (ADPKD) can be significant. Some families lack the resources necessary to provide for a chronically ill family member. There are several organizations that provide financial assistance.

The Social Security Administration provides disability benefits for people who qualify. ADPKD is not listed in the publication called the Disability Evaluation Under Social Security, also called the "Blue Book." However, people with ADPKD may still qualify for assistance if they have certain symptoms that qualify such as chronic kidney disease.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

References
When do I tell my child that they have autosomal dominant polycystic kidney disease?

One of the most difficult decisions for parents who have a child with autosomal dominant polycystic kidney disease is when to tell the child about their diagnosis. A child can be diagnosed through genetic testing, but not yet have any symptoms. Most people do not develop symptoms until they are adults. Parents should discuss this question with a genetic counselor and a metabolic geneticist. They should also talk to their doctor and entire medical team about the best ways to communicate to their child and ensure that the child is informed and able to deal with the information.

Whether to test children under the age 18 who have a parent with ADPKD is controversial. Many physicians advocate against this test if there are no symptoms present. Testing genetic conditions that commonly present in adulthood is uncommon and need careful consideration and genetic counseling is recommended.

Contact a medical geneticist or genetic counselor to discuss this more. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . 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.

References
I have autosomal dominant polycystic kidney disease, should I have my child tested?

Screening children who are under 18 for autosomal dominant polycystic disease is not usually done. ADPKD is usually an adult-onset disorder and there is no cure and the severity is difficult to predict. Screening a child is usually only done if the child shows symptoms. Screening children under the age of 18 for genetic conditions that commonly present in adulthood is uncommon and needs careful consideration and genetic counseling is recommended.

Contact a medical geneticist or genetic counselor to discuss this more. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . 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.

References
  • Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. GeneReviews website. Accessed Jan 20, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1246
  • Niaduet P. Autosomal Dominant Polycystic Kidney Disease in Children. UpToDate website. Accessed Dec 14, 2016. http://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-in-children
  • Torres VE, Bennett WM. Diagnosis and Screening for Autosomal Dominant Polycystic Kidney Disease. UpToDate website. Accessed Dec 14, 2016. http://www.uptodate.com/contents/diagnosis-of-and-screening-for-autosomal-dominant-polycystic-kidney-disease?source=search_result&search=polycystic+kidney&selectedTitle=1~60
Is autosomal dominant polycystic kidney disease acquired?

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder. It is not contagious and it is not acquired during your lifetime. ADPKD is caused by a gene change in the PKD1 or the PKD2 gene. This altered gene is part of your genetic makeup. Although the gene change is present at birth, symptoms usually do not develop until adulthood or middle age. However, symptoms can develop at any age, including in infants or children or the elderyy. If you have questions about the genetics involved in ADPKD, talk to a genetic counselor in your area.

References
Is diet and nutrition important in autosomal dominant polycystic kidney disease?

Following a healthy diet and getting proper nutrition is important for everyone, including people with autosomal dominant polycystic kidney disease (ADPKD). There is no specific diet that has been shown to affect the disease progression in ADPKD. There is some thought that a low protein diet may be beneficial. Some studies have shown that eating large amounts of protein can worsen declining kidney function, and some physicians recommend limiting the amount of protein in the diet. Some physicians also recommend limiting the amount of caffeine in the diet because caffeine may promote the growth of cysts. Salt is known to worsen high blood pressure. Although this has not been definitively proven in ADPKD, some physicians recommend limiting the amount of salt. Some physicians recommend limiting acid-producing foods. Physicians also recommend eating plenty of fruits and vegetables. People should make an effort to eat right and have a balanced, healthy diet. Individuals with ADPKD or parents of affected children should talk to their medical team about eating right and proper nutrition.

References
Are there certain sports or other activities that people with autosomal dominant polycystic kidney disease should avoid?

Regular exercise is a recommended part of a healthy lifestyle. People with autosomal dominant polycystic kidney disease (ADPKD) are encouraged to exercise and participate in sports and other activities. However, caution must be used for contact sports. Because of the enlarged kidneys (and possible other organs), there is a risk of cysts rupturing from a hard blow or hit during participation in contact sports. If individuals with ADPKD want to participate in such sports they may be required to wear protective padding. Talk to your physician and medical team before participating in any contact sport if you or your child is diagnosed with ADPKD.

References
How do children with autosomal dominant polycystic kidney disease do in school?

Although autosomal dominant polycystic kidney disease (ADPKD) is an adult-onset disorder, it can affect children. Children with ADPKD such as those with impaired kidney function may be eligible for an individualized education program (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on ADPKD and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans.

References
How do children with autosomal dominant polycystic kidney disease go from pediatric care to adult care?

Many people who have autosomal dominant polycystic kidney disease (ADPKD) as children may find it challenging when it's time to move (transition) from pediatric to adult care services. One big change is leaving a doctor with whom you have a long-standing relationship, a doctor who is familiar with both your condition and yourself. It can feel like 'starting over' as you'll begin to work with new doctors and a new medical team. Another challenge in moving to adult care is that young adults must take greater responsibility for their health. They must manage their disorder and manage their medications. They must bear greater responsibility for decisions concerning their health. Some hospitals have programs to help children with chronic disease transition to adult care services. Additionally, Global Genes, an organization that provides support and information for rare disorders, has information on the subject of young adults gaining independence.

References
  • Zurynski YA, Elliott EJ. Challenges of transition to adult health services for patients with rare diseases. Med J Aust. 2013;198(11):575-6.
  • Taking Control: Gaining Independence as a Young Adult with a Rare Disease. Global Genes website.
Can someone with autosomal dominant polycystic kidney disease get pregnant?

Most women with autosomal dominant polycystic kidney disease (ADPKD) who have normal blood pressure and kidney function with have uneventful pregnancies with no complications. However, some women may have high blood pressure because of their disease. Women who are planning on becoming pregnant should have their blood pressure monitored. They should also be monitored for urinary tract infections and oligohydramnios, a condition in which there is not enough amniotic fluid surrounding the fetus. Women with ADPKD should also be monitored for preeclampsia, a condition during pregnancy where high blood pressure results in damage to another organ system, especially the kidneys.

Women with ADPKD talk to their obstetricians & gynecologists as well as their regular doctor and medical team when considering becoming pregnant. Talking to a medical geneticist and genetic counselor is also recommended. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . 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.

References
Should people with autosomal dominant polycystic kidney disease drink more water?

People with kidney disease are usually advised to limit their intake of fluids. However, some people with autosomal dominant polycystic kidney disease (ADPKD) will be encouraged to increase how much water they drink each day. Drinking extra water can impair the growth of cysts in ADPKD. However, this is only recommended if a person has the ability to excrete the excess water through the urine. Determining the proper fluid intake for people with ADPKD should be made after close consultation with a person's medical team and a kidney specialist.

References
Why do some people develop symptoms of autosomal dominant polycystic kidney disease in childhood?

Researchers do not fully understand why most people develop symptoms of autosomal dominant polycystic kidney disease (ADPKD) as adults, but a small proportion of people develop symptoms as children or during infancy.

References
Do people with autosomal dominant polycystic kidney disease have a greater risk of developing cancer?

There are conflicting studies that show a form of cancer called renal cell carcinoma occurs with greater frequency in people with autosomal dominant polycystic kidney disease. In fact, one study showed that people with ADPKD who received a kidney transplant had a lower risk of developing this cancer. Either way, if someone develops renal cell carcinoma who also has ADPKD, the cancer will act differently from how it progresses in people without the disorder. Talk to your doctor and entire medical team if you have concerns about your or your child's symptoms or prognosis.

References
Do people with autosomal dominant polycystic kidney disease also get polycystic liver disease?

Cysts can affect almost any organ in autosomal dominant polycystic kidney disease (ADPKD). After the kidneys, the liver is the most commonly affected organ. This is called polycystic liver disease. In most people with ADPKD, cysts affecting the liver will not cause any symptoms and require no treatment. Sometimes, these cysts can be painful or can become infected.

References
Do people with autosomal dominant polycystic kidney disease also get cysts in their pancreas?

About 8% of people with autosomal dominant polycystic kidney disease (ADPKD) develop cysts affecting the pancreas. The pancreas is a long gland found deep in the abdomen. It produces hormones that aid in digestion and regulate blood sugar levels. Cysts in the pancreas rarely cause symptoms. In rare instances, people may experience inflammation of the pancreas, called pancreatitis. This can be extremely painful and even require hospitalization.

References
Does autosomal dominant polycystic kidney disease cause infertility?

Some men with autosomal dominant polycystic kidney disease (ADPKD) develop cysts in the seminal vesicles. These are two glands located behind the bladder. These glands secrete seminal fluid and make up most of the semen in men. About 40% of men with ADPKD develop cysts in the seminal vesicles. In extremely rare instances, this can lead to infertility. Some men have decreased sperm motility, which can also cause infertility.

Women with ADPKD can have children; the disorder does not affect their fertility. However, they may need to take extra precautions during their pregnancies, such as monitoring for high blood pressure or urinary tract infection.

References
Are there any drugs that people with autosomal dominant polycystic kidney disease should avoid?

Individuals with autosomal dominant polycystic kidney diseases (ADPKD) should avoid taking medications that are toxic to kidneys. This can include the combination of pain medications and nonsteroidal anti-inflammatories (NSAIDs), which may be used to treat pain. Some doctors recommend against NSAIDs because they can prolong bleeding and further damage the kidneys.

References
  • Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. GeneReviews website. Accessed Jan 20, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1246
  • Pei Y, Watnick T, Bissler J. PKD Patient Handbook. The PKD Foundation website. Updated 2015.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me