Autosomal dominant polycystic kidney disease

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.

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.

If you or a family member are diagnosed with autosomal dominant polycystic kidney disease (ADPKD), it is helpful to share your results with your family. Most people with ADPKD inherit the gene change from one of their parents. Siblings and children are at risk of having ADPKD and could consider genetic testing. Full siblings and children are your 1st degree relatives and share 50% of your DNA. Therefore, siblings and children of an individual with ADPKD have a 50/50 or 1 in 2 chance of having the disorder as well.

If a person is suspected of having ADPKD or if there is a family history of the disorder, the first test they may undergo is an abdominal ultrasound. An ultrasound is commonly used because it is inexpensive and safe. An ultrasound uses high frequency sound waves to create a picture of internal organs like the kidneys. This test can show an enlarged kidney and the presence of multiple cysts that characterize ADPKD. More sensitive imaging techniques like computed tomography (CT) scans or magnetic resonance imaging (MRIs) are usually not required, but may be used in certain situations. Testing adults at risk of developing ADPKD is called screening.

Genetic testing can also be used to test at-risk relatives if the change in the gene is known. If it is not known by evaluating the family history, testing of a parent can help to determine which side of the family has the altered PKD1 or PKD2 gene that causes the disorder. This can allow extended family (aunts, uncles, and cousins) to know who is at risk. A detailed family history can also provide information about which family members are at risk for developing the disorder. Predictive testing in asymptomatic at risk adults is available but it is highly recommended that the genetic testing process include genetic counseling for both pre- and post-test guidance. Clinical evaluation of at risk family members can also provide information about any symptoms or signs. Genetic testing of adolescents under the age of 18 for ADPKD, a serious disorder without a specific treatment, is controversial and many doctors do not recommend it.

A genetic professional can help you learn 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.

Support groups can put you in contact with other people or families that have autosomal dominant polycystic kidney disease (ADPKD). The PKD Foundation is the only organization in the United States dedicated to finding treatments and cures for polycystic kidney disease. They promote research, advocacy, support and awareness throughout the country and provide direct services to local communities. There are 60 different chapters.

In the United Kingdom, there is the PKD Charity. They support people with the disorder and their families. They raise awareness and fund research.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

The National Kidney Foundation has information on polycystic kidney disease, kidney transplants, dialysis and other kidney-related issues.

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.

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.

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.

If doctors suspect someone of having autosomal dominant polycystic kidney disease (ADPKD), they will conduct a complete physical examination and talk about a patient’s and family’s medical history. They may order specialized imaging tests and molecular genetic testing.

An ultrasound is commonly used to evaluate the kidneys and other organs for cysts. An ultrasound is commonly used because it is inexpensive and safe. An ultrasound uses high frequency sound waves to create a picture of internal organs like the kidneys. This test can show an enlarged kidney and the presence of multiple cysts that characterize ADPKD. More sensitive imaging techniques like computed tomography (CT) scans or magnetic resonance imaging (MRIs) are usually not required, but may be used in certain situations.

Molecular genetic testing can also be used to confirm a diagnosis. If there is a positive family history, a doctor may recommend molecular genetic testing. These tests involve studying the PKD1 or PKD2 genes for changes that cause the disorder. This can include sequence analysis, where a part or sequence of DNA within a gene is examined, or deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories. Molecular genetic testing will detect most people with ADPKD.

Talk to your doctor of a genetic professional about what the results of these tests may mean in ADPKD. 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.

Although the kidneys are the main organ affected by autosomal dominant polycystic kidney disease (ADPKD), other organs can commonly be affected as well. This is called extrarenal manifestations of the disorder. Because of a defective gene, either the PKD1 or PKD2 gene, cysts form in the kidneys and other organs. How ADPKD affects one person can be very different from how it affects another. Some people may never develop symptoms in their lifetime, while others develop kidney failure or other life-threatening complications.

After the kidneys, the liver is the next organ most commonly affected by cyst development. About 90% of affected people will eventually have cysts in the liver. These cysts usually develop later in life than cysts in the kidney do. These cysts rarely cause problems. When they do, symptoms can be pain and swelling of the abdomen, a feeling of being full after eating a small amount of food, difficulty breathing, backflow of the contents of the stomach into the esophagus (gastroesophageal reflux), and low back pain. Women usually have more cysts than men, and, consequently, have larger livers.

Cysts can form in the heart affecting the heart valves. There are four valves that regulate the flow of blood through the heart. Cysts in the heart may not cause any symptoms. Sometimes a condition called mitral valve prolapse may develop. The mitral valve connects the upper left chamber of the heart (left atrium) and the lower left chamber of the heart (left ventricle). This condition is marked by the valve bulging upward or backward. This can allow blood to leak back into the ventricle. Another heart problem that can develop is overgrowth of the left lower chamber of the heart (ventricular hypertrophy). As this condition progresses, people may have problems breathing, be fatigued, experience dizziness, experience palpitations of the heart, and experience chest pain, particularly after exercising. This condition is common in children with ADPKD.

About 10% of people may develop intracranial aneurysms. An aneurysm is bulge that develops on the wall of an artery. That section of the wall will balloon outward like a bulge that can develop on the side of a defective tire on a car. These aneurysms often do not cause symptoms. They can push against structures in the brain causing headaches, paralysis of certain facial nerves or seizures. The major concern with intracranial aneurysms is the risk of them rupturing, which can cause severe even life-threatening complications.

Some people have abdominal hernias, which are tears in the abdominal wall that allow part of the intestines to push through.

ADPKD can be a painful condition, most often affecting the lower back, chest, abdomen, and the areas between the last ribs and the hips (flanks). If cysts break open, this can be very painful. Pain may also occur because of heart problems, kidney stones, urinary tract infections or the enlarged kidneys pressing up against other structures.

The medical abbreviation for autosomal dominant polycystic kidney disease is ADPKD. Most people with this disorder have a change in one of two genes, either the PKD1 gene or the PKD2 gene. They are sometimes classified as having autosomal dominant polycystic kidney disease type 1 (ADPKD1 or PKD1), and autosomal dominant polycystic kidney disease type 2 (ADPKD2 or PKD2).

Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease are related disorders because both are characterized by cysts that form in the kidneys. In both disorders, cysts may also form in other organs of the body. Autosomal recessive PKD is usually a much more severe disorder than autosomal dominant PKD. Autosomal recessive PKD is caused by a change in both copies of the PHKD1 gene while most people with autosomal dominant PKD have a change in one copy of either the PKD1 or PKD2 gene.

Autosomal recessive PKD is a childhood disorder and most children develop symptoms by adolescence. Most times, the kidneys are enlarged in infancy and the disorder can be fatal during this period. Many affected children have significantly damaged kidney function by adolescence or young adulthood. The severity of the disorder can be different in one person when compared to another. Some require a kidney transplant in childhood, others in young adulthood. Some may not require a kidney transplant until adulthood, while others may never require a transplant.

A medical professional nearby can discuss information about gene changes in these disorders and the difference between autosomal dominant and autosomal recessive inheritance. 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.

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.

Autosomal dominant polycystic kidney disease or ADPKD is a genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Because of a change in one of at least two different genes, people with ADPKD lack a protein. These proteins are vital to the health, development and function of the kidneys. Affected individuals develop thousands of cysts in the kidneys that damage the kidneys and impair their function. For many people, the disease will progress to end-stage renal failure, requiring a kidney transplant, usually later in adulthood. Despite its name, cysts can also form in other areas of the body damaging other organs and causing symptoms unrelated to the kidneys. This includes the liver, heart, central nervous system, and the gastrointestinal tract are other areas that can be involved. The symptoms, severity and progression varies. This means how the disease affects one person can be very different from how it affects another person. This is true even for people in the same family. Most people do not develop symptoms until they are adults. Some people may never develop symptoms throughout their entire lives. However, sometimes children will show symptoms. In most people, ADPKD is caused by a change in one of two genes, the PKD1 gene or the PKD2 gene.

If there is a family history of autosomal dominant polycystic kidney disease (ADPKD), then people should undergo screening. This involves periodic evaluation through specialized x-ray tests that can show cysts on the kidneys.

The signs and symptoms of ADPKD can be very different in one person when compared to another. This is even true for people in the same family. So, it is very difficult for a primary care physician to diagnose the disorder. Initial signs of ADPKD can include high blood pressure, tears in the walls of the abdomen that allow part of the intestines to push through (abdominal hernias), or enlargement of the kidneys. These findings can prompt a doctor to order x-rays of the kidneys, which can show cysts. X-rays cannot confirm a diagnosis of ADPKD because there are other disorders that cause cysts to form in the kidneys. If a definitive diagnosis is required, molecular genetic testing can be performed. This involves studying the two genes associated with ADPKD for known changes that cause the disorder.

Most people with autosomal dominant polycystic kidney disease (ADPKD) have a change in one of two genes, either the PKD1 gene or the PKD2 gene. Gene changes in the PKD1 gene account for about 85% of people who have this disorder. Most of the rest have a change in the PKD2 gene. Very rarely, people with ADPKD do not have a change in either of these genes, which suggests that there may be another gene or genes that can cause the disorder.

People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly.

Generally, people with a change in the PKD2 gene have less severe disease. This is particularly true for women. Symptoms of ADPKD tend to appear later in adulthood in people with a change in the PKD2 gene. This includes declining kidney function as many people with a PKD2 gene change retain adequate kidney function well into adulthood.

A medical professional nearby can discuss information about gene changes in ADPKD. 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.

Autosomal dominant polycystic kidney disease (ADPKD) is caused by a change (variant) in one of two different genes, the PKD1 or the PKD2 gene. Not all changes in a gene necessarily cause disease. If a change is known to cause ADPKD, it is known as a pathogenic or disease-causing variant. Sometimes gene changes are found and scientists are unsure what it means, either because it has not been found before or has only been found in a few people. This is known as a variant of unknown significance. If you have a variant of unknown significance in one of these three genes, talk to your doctor about further testing that may help find out whether the gene change is pathogenic or not. A genetic counselor may also be able to help you review your test results. 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.

Rare diseases that affect multiple organ systems like autosomal dominant polycystic kidney disease (ADPKD) can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a general internist or pediatrician; a specialist in assessing and treating kidney disorders (nephrologist); a specialist in assessing and treating liver disease (hepatologist); a specialist in assessing and treating disorders of the brain and central nervous system (neurologist); a specialist in assessing and treating disorders of the blood vessels and heart (cardiologist); a specialist in assessing and treating disorders of the gastrointestinal tract (gastroenterologist); a genetic counselor who can help people understand the disease and the implications for the person and other family members; and a metabolic disease specialist.

Talk to your doctor about the best specialists in your area to follow an individual with ADPKD.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder. Because of a defective gene, cysts form in the kidneys that can damage the kidneys and impair their function. Cysts can also form in other areas of the body. How ADPKD affects one person can be very different from how it affects another. Some people may never develop symptoms in their lifetime, while others develop kidney failure or other life-threatening complications.

The kidneys major function is filtering the blood of waste materials. The kidneys also help to control the balance of water in the body and regulate the levels of electrolytes. In ADPKD, thousands of cysts may form in the kidneys. The kidneys may grow abnormally large, and weigh as much as thirty pounds. High blood pressure, called hypertension, can sometimes be an early symptom of ADPKD. Other early symptoms are flank and abdominal pain and blood in the urine. The flanks are the areas of the body from the last lower rib to the hips. Some people may have kidney stones (nephrolithiasis). People can have frequent urinary tract infections. Pain can be severe at some times because of the passage of a kidney stone, urinary tract infection, or internal bleeding because of the rupturing of cysts.

The kidneys may slowly have more and more trouble functioning. This is called kidney insufficiency. This can eventually lead to kidney failure, which requires dialysis and a kidney transplant. About 50% of people will develop kidney failure by 50 years of age.

Other areas of the body can develop cysts, particularly the liver. These cysts usually develop later in life than kidney cysts do. These cysts rarely cause problems. When they do, symptoms can be pain and swelling of the abdomen, pain in the abdomen, difficulty breathing, and low back pain.

Cysts can form in the heart affecting the heart valves. There are four valves that regulate the flow of blood through the heart. Cysts in the heart may not cause any symptoms. Sometimes a condition called mitral valve prolapse may develop. The mitral valve connects the upper left chamber of the heart (left atrium) and the lower left chamber of the heart (left ventricle). This condition is marked by the valve bulging upward or backward. This can allow blood to leak back into the ventricle. Another heart problem that people can develop is overgrowth of the left lower chamber of the heart (ventricular hypertrophy). As this condition progresses, people may have problems breathing, be fatigued, experience dizziness, experience palpitations of the heart, and experience chest pain, particularly after exercising. Ventricular hypertrophy is common in children with ADPKD. Some people may have widening or enlargement of the aortic root. This is the point where the aorta (the main artery of the body) connects to the lower right chamber of the heart. This can cause pain in the back and abdominal pain, leg pain, or nerve compression.

About 10% of people may develop intracranial aneurysms. An aneurysm is bulge that develops on the wall of an artery. That section of the wall will balloon outward like a bulge that can develop on the side of a defective tire on a car. These aneurysms often do not cause symptoms. They can push against structures in the brain causing headaches, paralysis of certain facial nerves or seizures. The major concern with intracranial aneurysm is the risk of them rupturing, which can cause severe even life-threatening complications.

Some people have abdominal hernias, which are tears in the abdominal wall that allow part of the intestines to push through. Some people have diverticulosis, a condition where bulges or out-pouches, called diverticula, form on the walls of the colon. These growths can cause abdominal pain, diarrhea or constipation, or bleeding from the rectum.

ADPKD can be a painful condition, most often affecting the lower back, chest, abdomen, and the areas between the last ribs and the hips (flanks). If cysts break open, this can be very painful. Pain may also occur because of heart problems, kidney stones, urinary tract infections or the enlarged kidneys pressing up against other structures.

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.

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.

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.

Autosomal dominant polycystic kidney disease (ADPKD) is not one of the disorders that is screened for at birth. Symptoms usually don’t develop until adulthood. Very rarely, children or infants may show symptoms. If a baby appears to have health problems that could be caused by ADPKD, the easiest way to begin testing for the disorder is to discuss it with the pediatrician or primary doctor. Referral to a metabolic genetic specialist may be necessary.

Predictive testing in asymptomatic at risk children is available, but it is highly recommended that the genetic testing process include genetic counseling for both pre- and post-test guidance. Clinical evaluation of at risk family members can also provide information about any symptoms or signs of ADPKD. Genetic testing of adolescents under the age of 18 for ADPKD, a potentially serious disorder without a specific treatment, is controversial and not recommend by many medical professionals.

Testing information in your area can also be obtained through a genetic counselor. 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. Information on how to add a disorder to newborn screening programs can be found at Save the Babies Through Screening Foundation.

As of June 2019, there are various trials for autosomal dominant polycystic kidney disease (ADPKD) listed on clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials. This may not be an exhaustive list of current research. Clinical trials are examining new medications to treat ADPKD, the effects of diet on the progression of the disorder, water as a therapy for ADPKD, and assessing pain in ADPKD.

The PKD Foundation may have information on research into the disorder. For the most up-to-date list, visit clinical trials.gov and search 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.

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.

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.

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.

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.

We each get two copies of most of our genes from our parents. One copy comes from our mother and the other copy comes from our father. In autosomal dominant polycystic kidney disease (ADPKD), a person only needs one altered PKD1 or PKD2 gene to have the disorder. This means that only one parent must pass along a nonworking copy of one of these genes. In most families with this disorder, one parent will have an altered PKD1 or PKD2 gene, which causes their disease. So, each of their children will have a 50% chance of inheriting that mutation and developing the disease. Very rarely, people with ADPKD do not have a change in either of these genes. This means that another gene or genes may cause the disorder.

Sometimes people who have the disorder are the first person in the family with the disorder. This occurs because of a de novo mutation, which means that the altered gene occurs randomly, most likely after fertilization. In families with a child with a de novo mutation, the likelihood of having another child with ADPKD is extremely low.

If you have a family member with ADPKD and you would like to learn more about the genetics of the disorder, talk to your doctor or meet with a genetic counselor to discuss testing options. 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.

Autosomal dominant polycystic kidney disease (ADPKD) is inherited in an autosomal dominant manner. This is one way a disorder or trait can be passed down through a family. The first word, "autosomal," means on a chromosome that both males and females carry. Therefore, the disorder can affect either gender. The second word, "dominant," means a change in one copy of the altered gene that causes the disorder is enough for them to develop ADPKD. Two genes that, when altered or mutated, are known to cause this disorder. They are the PKD1 or the PKD2 genes. Everyone has two copies of every gene – one inherited from our mother and one from our father – for a dominant condition, only one of them needs to have the problem. This means that if a parent carries an altered PKD1 or PKD2 gene, they have a 50% chance to pass the affected gene to each of their offspring, regardless of gender. This also means that there is a 50% chance that an affected parent would not pass this on to their children. Genetic testing may be available to determine if a child has inherited the altered gene. Genetic testing of adolescents under the age of 18 for ADPKD, a serious disorder without a specific treatment, is controversial and many doctors do not recommend it.

In about 5%-10% of people, there is no previous history of ADPKD in the family. The altered gene occurs randomly, most likely after fertilization. This is also called a de novo mutation. The altered gene in the child can be passed on as an autosomal dominant trait. In families with a child with a de novo mutation, the likelihood of having another child with ADPKD is extremely low.

If you have a family member with ADPKD and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options.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.

In most people, changes (mutations) in one of two genes causes autosomal dominant polycystic kidney disease (ADPKD), either the PKD1 gene or the PKD2 gene. These genes produce proteins. The PKD1 gene produces a protein called polycystin 1; the PKD2 gene produces a protein called polycystin 2. These proteins have several roles in the body. Researchers do not fully understand these roles or how specifically these proteins function. Researchers do know that the two proteins work together to ensure the proper development health and function of the kidneys. Because of changes to these genes, thousands of cysts can develop in the kidneys and other areas of the body. The exact way that changes to these genes cause cysts to form is not fully understood. Researchers are studying this disease to determine how cysts form, which may lead to new ways to treat the disorder.

A doctor may suspect a diagnosis of autosomal dominant polycystic kidney disease (ADPKD) because of certain symptoms. This is particularly true if there is a family history of the disorder. A doctor will do a complete physical examination and talk about a patient and family’s medical history. Enlargement of the kidneys or liver in a person with a family history of ADPKD is highly suggestive of having the disorder. Doctors may suspect the disorder because of high blood pressure, tears in the abdominal walls that allow parts of the intestines to push through (abdominal hernias), and mitral valve prolapse, a condition in with the mitral valve of the heart does not close properly, allowing blood to flow backward from the upper left chamber (left atria) into the lower left chamber (left ventricle).

If a person is suspected of having ADPKD or if there is a family history of the disorder, the first test they may undergo is an abdominal ultrasound. An ultrasound is commonly used because it is inexpensive and safe. An ultrasound uses high frequency sound waves to create a picture of internal organs like the kidneys. This test can show an enlarged kidney and the presence of multiple cysts in the kidneys that characterize ADPKD. More sensitive imaging techniques like computed tomography (CT) scans or magnetic resonance imaging (MRIs) are usually not required, but may be used in certain situations.

Doctors may recommend genetic testing to confirm a diagnosis. These tests involve studying PKD1 or PKD2 genes for changes (mutations) that cause ADPKD. At-risk members of the family who do not have symptoms can receive genetic testing to see whether they have the disorder. Most doctors believe that children under the age of 18 who have a family history of ADPKD and no symptoms should not be tested.

Sometimes, ADPKD is diagnosed because doctors see cysts on the kidneys or other organs when a person is being evaluated for another condition. This prompts the doctors to evaluate that person for ADPKD.

If you believe that you or your child has ADPKD, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. The PKD Foundation may be able to provide referrals to physicians experienced in diagnosing and treating the disorder. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

If you suspect that someone in your family has ADPKD, you should also talk to a genetic counselor in your area. 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.

To learn about ongoing clinical research into autosomal dominant polycystic kidney disease (ADPKD) ask a physician who specializes in the disorder. Medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

Ongoing studies for ADPKD can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. The PKD Foundation has a Clinical Trial Awareness Program.

One of the best ways to find a treatment center or physician with experience in treating autosomal dominant polycystic kidney disease (ADPKD) is to contact a national support group. The PKD Foundation has 60 chapters and can help you locate physicians experienced in treating this disorder.

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.

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.

Autosomal dominant polycystic kidney disease is the most common inherited cause of kidney disease. The prevalence is estimated to be somewhere between 1 in 400 to 1,000 in the general population. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the amount of new people with a disorder or newly-diagnosed. It is estimated to affect as many as 600,000 people in the United States have the disorder. Many people may not known they have the disorder because they do not have symptoms, or only have mild symptoms. The disorder accounts for about 5% of all people needing dialysis or a kidney transplant in the United States. The disorder can affect people of any race or ethnic background.

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.

Most people with autosomal dominant polycystic kidney disease (ADPKD) have a change (mutation) in one of two genes, the PKD1 or the PKD2 gene. Generally, the PKD1 gene is associated with an earlier onset of symptoms and faster progression of symptoms. How the disorder affects one person can be very different from how it affects another person. Doctors believe that ADPKD may be influenced by genetic modifiers and environmental factors. Although ADPKD is caused by changes in the PKD1 or PKD2 genes, other genes may influence how severe the disorder is or what symptoms occur or how fast it progresses. These genes are called genetic modifiers. An environmental factor is something in the environment that interacts with a person’s genetic makeup and affects how a disease progresses in a person.

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.

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.

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.

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.

Parents who have a family history of autosomal dominant polycystic kidney disease or ADPKD (or if one parent has the altered PKD1 or PKD2 gene that cause the disorder) may choose to have their child tested for ADPKD before the child is born. This is known as prenatal diagnosis. If the gene change(s) that causes the disorder are known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. Prenatal testing for genetic conditions that commonly present in adulthood is uncommon and need careful consideration and genetic counseling is recommended.

Preimplantation genetic diagnosis (PGD) in which embryos can be genetically tested is also available. During this process, embryos are created through in vitro fertilization (IVF) by taking eggs from the mother and sperm from the father. The two are then combined in the laboratory. A few cells are removed from the embryo and are then tested to determine whether that specific embryo inherited the altered PKD1 or PKD2 gene. Then, the family can choose to only have the embryos without ADPKD transferred to create the pregnancy.

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.

Most people with autosomal dominant polycystic kidney disease (ADPKD) have a change (mutation) in one of two genes, the PKD1 gene or the PKD2 gene. About 85% of people have a change in the PKD1 gene. Sometimes this called autosomal dominant polycystic kidney disease type 1. Most of the remaining people have a change in the PKD2 gene. Sometimes this is called autosomal dominant polycystic kidney disease type 2. Very rarely, people with ADPKD do not have a change in either of these genes, suggesting that another gene or genes can cause the disorder. Generally, the PKD1 gene is associated with an earlier onset of symptoms and faster progression of symptoms.

A genetic professional nearby can discuss information about gene changes in these genes and ADPKD. 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.

There are no others names for autosomal dominant polycystic kidney disease. The disorder was once called adult onset polycystic kidney disease because symptoms usually do not develop until adulthood. However, doctors now know that sometimes children and even infants will develop symptoms so that name is no longer used. Autosomal dominant polycystic kidney disease is abbreviated ADPKD. There is a related, but distinct disorder called autosomal recessive polycystic kidney disease, which involves a change in both copies of a different gene and is a more severe disorder.

In the United States, there is only one organization solely dedicated to finding treatments and a cure for polycystic kidney disease. This is the PKD Foundation. It has over 60 chapters. There are organizations that provide resources and information on specific symptoms of polycystic kidney disease. For example, the National Kidney Foundation has information on polycystic kidney disease, kidney transplants, dialysis and other kidney-related issues.

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.

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.