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Picture of Chromosome Carrying the Gene of the Disorder

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Picture of Chromosome Carrying the Gene of the Disorder

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Karyotype of Polycystic Kidney Disease (other interesting photo)

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Karyotype of Polycystic Kidney Disease (other interesting photo)

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The PKD foundation is a non-profit set up to assist in finding treatments and or a cure for the disease.

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National Organization for Rare Disorders

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About PKD Foundation (Polycystic Kidney Disease)

The PKD Foundation is a not-for-profit organization dedicated to finding treatments and a cure for polycystic kidney disease (PKD). Their mission: We give hope. We fund research, advocate for patients and build a community for those affected by PKD. Their vision: #endPKD. The PKD Foundation founded in 1982 by Joseph H. Bruening and Jared J. Grantham, M.D., and is headquartered in Kansas City, MO. PKD Connect: Whether you are looking for information, resources or just a shoulder to lean on, PKD Connect gives you the support to keep hope within reach.

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PKD Foundation (Polycystic Kidney Disease) - National Organization for Rare Disorders

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The PKD Foundation is a not-for-profit organization dedicated to finding treatments and a cure for polycystic kidney disease (PKD). Their mission: We give hope. We fund research, advocate for patients and build a community for those affected by PKD. Their vision: #endPKD. The PKD Foundation founded in 1982 by Joseph H.

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Johns Hopkins Research is showing potential for a cure of this disease.

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Gastroenterologist and genetics researcher Liudmila Cebotaru works on gene and drug-based therapies for genetic diseases and is currently developing a treatment for polycystic kidney disease (PKD) - for which there is no known cure. Medical management of the symptoms of PKD is at best difficult, and most often, impossible. Her work shows initial promise.

Up to this point, Cebotaru has devoted much of her career to therapies for cystic fibrosis. She says that, while cystic fibrosis is primarily a lung disease, it has equally dangerous effects on organs of the gastrointestinal tract, such as the intestine, liver and the pancreas.

PKD has similar characteristics. "PKD primarily affects kidneys. But other organs and systems are also implicated. It affects blood vessels, the brain and the heart. And it can lead to polycystic liver disease." says Cebotaru.

She explains that PKD causes increased blood pressure and can overwhelm the kidneys with cysts.

"At that point, there's no kidney function at all," says Cebotaru. "These people will need a transplant."

Affecting 600,000 Americans, the most common form of PKD is autosomal dominant, meaning that only one defective gene will cause disease if passed to offspring. The disease is usually diagnosed in patients between the ages of 30 and 60, though research indicates that cysts begin forming in the kidneys in utero.

Cebotaru's work with CFTR, the chloride channel and membrane protein that causes cystic fibrosis, informed her suspicion that it might also play a role in this kidney disorder. Working both with mice and with 3D models of kidney cysts, Cebotaru found that introducing a specific CFTR corrector slowed cystic growth in the kidneys.

"Our research demonstrates that the corrector, VX-809, reduces cyst growth, both in mice and in 3D models," she explains. "The mice had better renal function and less cystic growth. The VX-809 also reduced the levels of heat shock proteins in the mouse kidneys, consistent with the restoration of cellular proteostasis.

The research opened a new window into PKD therapeutics by demonstrating how VX-809 can reverse CFTR, so that rather than secreting fluid, it functions in fluid absorption, thereby shrinking cysts and preserving kidney function.

Cebotaru continues her research in hopes of finding a novel therapy or cure for PKD.

"The work has been very encouraging so far," she says.

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Johns Hopkins Research Shows Potential for Cure for Polycystic Kidney Disease - Johns Hopkins Medicine

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Gastroenterologist and genetics researcher Liudmila Cebotaru works on gene and drug-based therapies for genetic diseases and is currently developing a treatment for polycystic kidney disease (PKD) - for which there is no known cure. Medical management of the symptoms of PKD is at best difficult, and most often, impossible.

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There is no cure for this disease currently, however, there are treatments to slow down and prevent it. They are prompt treatment with antibiotics for bladder or kidney infection, medication to control pain (talk to your doctor about which over-the-counter medicines are safe to take if you have kidney disease), and drinking lots of fluids when blood is first noted in the urine.

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What is polycystic kidney disease?

Polycystic kidney disease (also called PKD) causes numerous cysts to grow in the kidneys. These cysts are filled with fluid. If too many cysts grow or if they get too big, the kidneys can become damaged. PKD cysts can slowly replace much of the kidneys, reducing kidney function and leading to kidney failure.

How common is PKD?

In the United States about 600,000 people have PKD. It is the fourth leading cause of kidney failure. It is found in all races and occurs equally in men and women. It causes about 5% of all kidney failure.

What other organs besides the kidney are affected by PKD?

PKD can affect other organs besides the kidney. People with PKD may have cysts in their liver, pancreas, spleen, ovaries, and large bowel. Cysts in these organs usually do not cause serious problems, but can in some people. PKD can also affect the brain or heart. If PKD affects the brain, it can cause an aneurysm. An aneurysm is a bulging blood vessel that can burst, resulting in a stroke or even death. If PKD affects the heart, the valves can become floppy, resulting in a heart murmur in some patients.

What are the clues that someone has PKD?

Most people do not develop symptoms until they are 30 to 40 years old. The first noticeable signs and symptoms may include:

Back or side pain

An increase in the size of the abdomen

Blood in the urine

Frequent bladder or kidney infections

High blood pressure
High blood pressure is the most common sign of PKD. Occasionally, patients may develop headaches related to high blood pressure or their doctors may detect high blood pressure during a routine physical exam. Because high blood pressure can cause kidney damage, it is very important to treat it. In fact, treatment of high blood pressure can help slow or even prevent kidney failure.

Fluttering or pounding in the chest
About 25% of PKD patients have a so-called floppy valve in the heart, and may experience a fluttering or pounding in the chest as well as chest pain. These symptoms almost always disappear on their own but may be the first hint that someone has PKD.

How is PKD diagnosed?

Ultrasound is the most reliable, inexpensive and non-invasive way to diagnose PKD. If someone at risk for PKD is older than 40 years and has a normal ultrasound of the kidneys, he or she probably does not have PKD. Occasionally, a CT scan (computed tomography scan) and MRI (magnetic resonance imaging) may detect smaller cysts that cannot be found by an ultrasound. MRI is used to measure and monitor volume and growth of kidneys and cysts.

In some situations, genetic testing might also be done. This involves a blood test that checks for abnormal genes that cause the disease. Genetic testing is not recommended for everyone. The test is costly, and it also fails to detect PKD in about 15% of people who have it. However, genetic testing can be useful when a person:

has an uncertain diagnosis based on imaging tests

has a family history of PKD and wants to donate a kidney

is younger than 30-years old with a family history of PKD and a negative ultrasound, and is planning to start a family

Does everyone with PKD develop kidney failure?

No. About 50 percent of people with PKD will have kidney failure by age 60, and about 60 percent will have kidney failure by age 70. People with kidney failure will need dialysis or a kidney transplant. Certain people have an increased risk of kidney failure including:

men

patients with high blood pressure

patients with protein or blood in their urine

women with high blood pressure who have had more than three pregnancies

How is PKD treated?

At present, there is no cure for PKD. However, a lot of research is being done. Recent studies suggest that drinking plain water throughout the day and avoiding caffeine in beverages can slow the growth of cysts. Research is also helping us understand the genetic basis of PKD.

Studies also suggest that some treatments may slow the rate of kidney disease in PKD, but further research is needed before these treatments can be used in patients. In the meantime, many supportive treatments can be done to control symptoms, help slow the growth of cysts, and help prevent or slow down the loss of kidney function in people with PKD. These include:

careful control of blood pressure

prompt treatment with antibiotics of a bladder or kidney infection

lots of fluid when blood in the urine is first noted

medication to control pain (talk to your doctor about which over-the-counter medicines are safe to take if you have kidney disease)

a healthy lifestyle with regard to smoking cessation, exercise, weight control and reduced salt intake

drinking lots of plain water throughout the day

avoiding caffeine in all beverages

Should people with PKD take a special diet?

At present, no specific diet is known to prevent cysts from developing in patients with PKD. Reducing salt intake helps control blood pressure in PKD patients who have high blood pressure. A diet low in fat and moderate in calories is recommended to maintain a healthy weight. Speak to your doctor or a dietitian about other changes to your diet, such as avoiding caffeine.

Is exercise recommended for people with PKD?

Absolutely. However, exercises that are potentially harmful to the kidney, such as contact sports, should be avoided. It is important not to become too dehydrated during any physical activity.

Who is at risk for developing PKD?

PKD runs in families. It is an inherited disorder that is passed from parents to children through genes. Genes are the basic elements of heredity. At conception, children receive a set of genes from each parent. They determine many characteristics such as hair color and eye color. Genes can also determine the likelihood of developing a disease.

A genetic disease can happen if one or both parents pass abnormal genes to a child. This happens through something called dominant inheritance or recessive inheritance.

If one parent has the disease and passes an abnormal gene to the child, it is called dominant inheritance. Each child has a 50% chance of getting the disease. The risk is the same for every child, regardless of how many children develop the disease.

If both parents carry the abnormal gene, and both parents pass an abnormal gene to the child, it is called recessive inheritance. In this situation, every child has a 25% chance of getting the disease.

Are there different types of PKD?

Yes. The three main types of PKD are:

Autosomal Dominant PKD
(also called PKD or ADPKD)
This form of the disease is passed from parent to child by dominant inheritance. In other words, only one copy of the abnormal gene is needed to cause the disease. Symptoms usually begin between the ages of 30 and 40, but they can begin earlier, even in childhood. ADPKD is the most common form of PKD. In fact, about 90 percent of all PKD cases are ADPKD.

Infantile or Autosomal Recessive PKD
(also called ARPKD)
This form of the disease is passed from parent to child by recessive inheritance. Symptoms can begin in the earliest months of life, even in the womb. It tends to be very serious, progresses rapidly, and is often fatal in the first few months of life. This form of ARPKD is extremely rare. It occurs in 1 out of 25,000 people.

Acquired Cystic Kidney Disease
(also called ACKD)
ACKD can happen in kidneys with long-term damage and severe scarring, so it is often associated with kidney failure and dialysis. About 90 percent of people on dialysis for 5 years develop ACKD. People with ACKD usually seek help because they notice blood in their urine. This is because the cysts bleed into the urinary system, which discolors urine.

Should people with PKD have children?

Individuals with PKD who are concerned about passing the disease to their children may want to consult a genetics counselor to help them with family planning. Many university medical centers have this service.

Should women with PKD get pregnant?

Most of the women with PKD (80 percent) have successful and uneventful pregnancies. However, some women with PKD have an increased risk for serious complications for themselves and their babies. This includes women with PKD who also have:

high blood pressure

decreased kidney function

Women who have PKD with high blood pressure develop pre-eclampsia (or toxemia) in 40 percent of pregnancies. This is a life-threatening disorder for both the mother and baby, and it can develop suddenly and without warning. Therefore, all women with PKD, particularly those who also have high blood pressure, should be followed closely during their pregnancy by their doctor.

What if I have more questions?

If you have more questions, you should speak to your doctor. You can also get more information from:

Polycystic Kidney Disease Foundation
8330 Ward Parkway, Suite 510
Kansas City, MO 64114
(800) PKD-CURE
www.pkdcure.org

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What is polycystic kidney disease? Polycystic kidney disease (also called PKD) causes numerous cysts to grow in the kidneys. These cysts are filled with fluid. If too many cysts grow or if they get too big, the kidneys can become damaged. PKD cysts can slowly replace much of the kidneys, reducing kidney function and leading to kidney failure.

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- high blood pressure
- back or side pain
- blood in your urine
- feeling of fullness in your abdomen
- increased size of your abdomen
- headaches
- kidney stones
- kidney failure

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How many people are affected by Polycystic Kidney Disease affect?

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How many people are affected by Polycystic Kidney Disease affect?

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This disease affects roughly 500,000 people in the United States. It affects 1 in every 400 to 1,000 people worldwide. It also affects 1 in 20,000 children.

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National Institute of Diabetes and Digestive and Kidney Diseases

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Polycystic kidney disease (PKD) is a genetic disorder that causes many fluid-filled cysts to grow in your kidneys. Unlike the usually harmless simple kidney cysts that can form in the kidneys later in life, PKD cysts can change the shape of your kidneys, including making them much larger.

PKD is a form of chronic kidney disease (CKD) that reduces kidney function and may lead to kidney failure. PKD also can cause other complications, or problems, such as high blood pressure, cysts in the liver, and problems with blood vessels in your brain and heart.

What are the types of PKD?

The two main types of PKD are

How common is PKD?

PKD is one of the most common genetic disorders. PKD affects about 500,000 people in the United States. ¹

ADPKD affects 1 in every 400 to 1,000 people in the world, and ARPKD affects 1 in 20,000 children. ²,3

Who is more likely to have PKD?

PKD affects people of all ages, races, and ethnicities worldwide. The disorder occurs equally in women and men.

What causes PKD?

A gene mutation, or defect, causes PKD. In most PKD cases, a child got the gene mutation from a parent. In a small number of PKD cases, the gene mutation developed on its own, without either parent carrying a copy of the mutated gene. This type of mutation is called "spontaneous." Read more about genes and genetic conditions.

What are the signs and symptoms of PKD?

The signs and symptoms of ADPKD, such as pain, high blood pressure, and kidney failure, are also PKD complications. In many cases, ADPKD does not cause signs or symptoms until your kidney cysts are a half inch or larger in size.

Early signs of ARPKD in the womb are larger-than-normal kidneys and a smaller-than-average size baby, a condition called growth failure. The early signs of ARPKD are also complications. However, some people with ARPKD do not develop signs or symptoms until later in childhood or even adulthood.

Can I prevent PKD?

Researchers have not yet found a way to prevent PKD. However, you may be able to slow PKD problems caused by high blood pressure, such as kidney damage. Aim for a blood pressure goal of less than 120/80. Work with a health care team to help manage your or your child's PKD. The health care team will probably include a general practitioner and a nephrologist, a health care provider specializing in kidney health.

What can I do to slow down PKD?

The sooner you know you or your child has PKD, the sooner you can keep the condition from getting worse. Getting tested if you or your child are at risk for PKD can help you take early action.

You also can take steps to help delay or prevent kidney failure. Healthy lifestyle practices such as being active, reducing stress, and quitting smoking can help.

Make lifestyle changes

Be active for 30 minutes or more on most days. Regular physical activity can help you reduce stress, manage your weight, and control your blood pressure. If you are not active now, ask your health care provider about how much and what type of physical activity is right for you.

If you play contact sports, such as football or hockey, a health care provider should do a magnetic resonance imaging (MRI) test to see whether these sports are safe for you. Trauma to your body, especially to your back and sides, may cause kidney cysts to burst.

Lose weight. Being overweight makes your kidneys work harder. Losing weight helps protect your kidneys.

Aim for 7 to 8 hours of sleep each night. Getting enough sleep is important to your overall physical and mental health and can help you manage your blood pressure and blood glucose, or blood sugar.

Reduce stress. Long-term stress can raise your blood pressure and even lead to depression. Some of the steps you take to manage your PKD are also healthy ways to cope with stress. For example, getting enough physical activity and sleep helps reduce stress.

Quit smoking. Cigarette smoking can raise your blood pressure, making your kidney damage worse. Quitting smoking may help you meet your blood pressure goals, which is good for your kidneys and can lower your chances of having a heart attack or stroke. Quitting smoking is even more important for people with PKD who have aneurysms. An aneurysm is a bulge in the wall of a blood vessel. For tips on quitting, go to Smokefree.gov.

To help delay or prevent kidney failure, be active, reduce stress, and quit smoking.

Change what you eat and drink

You may need to change what you eat and drink to help control your blood pressure and protect your kidneys. People with any kind of kidney disease, including PKD, should talk with a dietitian about which foods and drinks to include in their healthy eating plan and which may be harmful. Staying hydrated by drinking the right amount of fluid may help slow PKD's progress toward kidney failure. Read more about what to eat or drink if you have PKD or are at risk for PKD.

Take blood pressure medicines

If lifestyle and diet changes don't help control your blood pressure, a health care provider may prescribe one or more blood pressure medicines. Two types of blood pressure medicines, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), may slow kidney disease and delay kidney failure. The names of these medicines end in -pril or -sartan.

References

[1] U.S. National Library of Medicine. Genetics home reference. Polycystic kidney disease website. Reviewed May 2014. Accessed December 7, 2016.

[2] Vicente E Torres MD, William M Bennett MD. Diagnosis of and screening for autosomal dominant polycystic kidney disease. UpToDate website. Updated: September 2, 2015. Accessed December 7, 2016.

[3] Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 2003;111(5 Pt 1):1072-1080.

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What Is Polycystic Kidney Disease? - NIDDK

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Polycystic kidney disease (PKD) is a genetic disorder that causes many fluid-filled cysts to grow in your kidneys. Unlike the usually harmless simple kidney cysts that can form in the kidneys later in life, PKD cysts can change the shape of your kidneys, including making them much larger.

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Autosomal Dominant Polycystic Kidney Disease

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Overview

Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys.

Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure.

PKD varies greatly in its severity, and some complications are preventable. Lifestyle changes and treatments might help reduce damage to your kidneys from complications.

Products & Services

Symptoms

Polycystic kidney disease symptoms can include:

High blood pressure

Back or side pain

Blood in your urine

A feeling of fullness in your abdomen

Increased size of your abdomen due to enlarged kidneys

Headaches

Kidney stones

Kidney failure

Urinary tract or kidney infections

When to see a doctor

It's not uncommon for people to have polycystic kidney disease for years without knowing it.

If you develop some of the signs and symptoms of polycystic kidney disease, see your doctor. If you have a first-degree relative - parent, sibling or child - with polycystic kidney disease, see your doctor to discuss screening for this disorder.

Causes

Abnormal genes cause polycystic kidney disease, which means that in most cases, the disease runs in families. Sometimes, a genetic mutation occurs on its own (spontaneous), so that neither parent has a copy of the mutated gene.

The two main types of polycystic kidney disease, caused by different genetic flaws, are:

Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder.

Only one parent needs to have the disease for it to pass to the children. If one parent has ADPKD, each child has a 50% chance of getting the disease. This form accounts for most of the cases of polycystic kidney disease.

Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than is ADPKD. The signs and symptoms often appear shortly after birth. Sometimes, symptoms don't appear until later in childhood or during adolescence.

Both parents must have abnormal genes to pass on this form of the disease. If both parents carry a gene for this disorder, each child has a 25% chance of getting the disease.

Complications

Complications associated with polycystic kidney disease include:

High blood pressure. Elevated blood pressure is a common complication of polycystic kidney disease. Untreated, high blood pressure can cause further damage to your kidneys and increase your risk of heart disease and strokes.

Loss of kidney function. Progressive loss of kidney function is one of the most serious complications of polycystic kidney disease. Nearly half of those with the disease have kidney failure by age 60.

PKD can interfere with the ability of your kidneys to keep wastes from building to toxic levels, a condition called uremia. As the disease worsens, end-stage kidney (renal) disease may result, necessitating ongoing kidney dialysis or a transplant to prolong your life.

Chronic pain. Pain is a common symptom for people with polycystic kidney disease. It often occurs in your side or back. The pain can also be associated with a urinary tract infection, a kidney stone or a malignancy.

Growth of cysts in the liver. The likelihood of developing liver cysts for someone with polycystic kidney disease increases with age. While both men and women develop cysts, women often develop larger cysts. Female hormones and multiple pregnancies might contribute to liver cyst development.

Development of an aneurysm in the brain. A balloon-like bulge in a blood vessel (aneurysm) in your brain can cause bleeding (hemorrhage) if it ruptures. People with polycystic kidney disease have a higher risk of aneurysms. People with a family history of aneurysms seem to be at highest risk. Ask your doctor if screening is needed in your case. If screening reveals that you don't have an aneurysm, your doctor may recommend repeating the screening exam in a few years or after several years as a follow-up. The timing of repeat screening depends on your risk.

Pregnancy complications. Pregnancy is successful for most women with polycystic kidney disease. In some cases, however, women may develop a life-threatening disorder called preeclampsia. Those most at risk have high blood pressure or a decline in kidney function before they become pregnant.

Heart valve abnormalities. As many as 1 in 4 adults with polycystic kidney disease develops mitral valve prolapse. When this happens, the heart valve no longer closes properly, which allows blood to leak backward.

Colon problems. Weaknesses and pouches or sacs in the wall of the colon (diverticulosis) may develop in people with polycystic kidney disease.

Prevention

If you have polycystic kidney disease and you're considering having children, a genetic counselor can help you assess your risk of passing the disease to your offspring.

Keeping your kidneys as healthy as possible may help prevent some of the complications of this disease. One of the most important ways you can protect your kidneys is by managing your blood pressure.

Here are some tips for keeping your blood pressure in check:

Take the blood pressure medications prescribed by your doctor as directed.

Eat a low-salt diet containing plenty of fruits, vegetables and whole grains.

Maintain a healthy weight. Ask your doctor what the right weight is for you.

If you smoke, quit.

Exercise regularly. Aim for at least 30 minutes of moderate physical activity most days of the week.

Limit alcohol use.

Show references

1. Polycystic kidney disease (PKD). National Institute of Diabetes and Digestive and Kidney Diseases. https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease. Accessed May 6, 2020.

2. Chapman AB, et al. Autosomal dominant polycystic kidney disease (ADPKD): Treatment. https://www.uptodate.com/contents/search. Accessed May 6, 2020.

3. Polycystic kidney disease. American Kidney Fund. https://www.kidneyfund.org/kidney-disease/other-kidney-conditions/polycystic-kidney-disease.html. Accessed May 6, 2020.

4. Bennett WM, et al. Autosomal dominant polycystic kidney disease (ADPKD): Extrarenal manifestations. https://www.uptodate.com/contents/search. Accessed May 6, 2020.

5. Polycystic kidney disease. National Kidney Foundation. https://www.kidney.org/atoz/content/polycystic. Accessed May 6, 2020.

6. Torres VE, et al. Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis. https://www.uptodate.com/contents/search. Accessed May 6, 2020.

7. Albert CM, et al. Autosomal dominant polycystic kidney disease: The changing face of clinical management. The Lancet. 2015; doi:10.1016/S0140-6736(15)60907-2.

8. Rossetti S, et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. Journal of the American Society of Nephrology. 2012; doi:10.1681/ASN.2011101032.

9. Torres VE, et al. Strategies targeting cAMP signaling in the treatment of polycystic kidney disease. Journal of the American Society of Nephrology. 2014; doi:10.1681/ASN.2013040398.

10. Shoaf SE, et al. Pharmacokinetics and pharmacodynamics of tolvaptan in autosomal dominant polycystic kidney disease: Phase 2 trials for dose selection in the pivotal phase 3 trial. The Journal of Clinical Pharmacology. 2017; doi:10.1002/jcph.880.

11. Hogan MC, et al. Somatostatin analog therapy for severe polycystic liver disease: Results after 2 years. Nephrology Dialysis Transplantation. 2012; doi:10.1093/ndt/gfs152.

12. Ferri FF. Autosomal dominant polycystic kidney disease (ADPKD). In: Ferri's Clinical Advisor 2020. Elsevier; 2020. https://www.clinicalkey.com. Accessed May 6, 2020.

13. AskMayoExpert. Autosomal dominant polycystic kidney disease (ADPKD). Mayo Clinic; 2020.

14. Warner KJ. Allscripts EPSi. Mayo Clinic. Feb. 5, 2020.

15. Chebib FT, et al. Autosomal dominant polycystic kidney disease: Core curriculum 2016. American Journal of Kidney Diseases. 2016; doi:10.1053/j.ajkd.2015.07.037.

16. Chebib FT, et al. Recent advances in the management of autosomal dominant polycystic kidney disease. Clinical Journal of the American Society of Nephrology. 2018; doi:10.2215/CJN.03960318.

17. Chebib FT, et al. A practical guide for treatment of rapidly progressive ADPKD with tolvaptan. Journal of the American Society of Nephrology. 2018; doi:10.1681/ASN.2018060590.

18. Chebib FT (expert opinion). Mayo Clinic. July 10, 2020.

19. Abrol N, et al. Simultaneous bilateral laparoscopic nephrectomy with kidney transplantation in patients with ESRD due to ADPKD: A single-center experience. American Journal of Transplantation. 2020; doi: 10.1111/ajt.16310.

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Polycystic kidney disease - Symptoms and causes

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Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large.

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The Inheritance of Polycystic Kidney disease is an autosomal dominant pattern.

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Description

Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.

Frequent complications of polycystic kidney disease include dangerously high blood pressure ( hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.

The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.

Frequency

Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people.

Causes

Mutations in the , , and genes cause polycystic kidney disease.

Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease; PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2. These genes provide instructions for making proteins whose functions are not fully understood. Researchers believe that they are involved in transmitting chemical signals from outside the cell to the cell's nucleus. The two proteins work together to promote normal kidney development, organization, and function. Mutations in the PKD1 or PKD2 gene lead to the formation of thousands of cysts, which disrupt the normal functions of the kidneys and other organs. People with mutations in the PKD2 gene, particularly women, typically have a less severe form of the disease than people with PKD1 mutations. The signs and symptoms, including a decline in kidney function, tend to appear later in adulthood in people with a PKD2 mutation.

Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. This gene provides instructions for making a protein whose exact function is unknown; however, the protein likely transmits chemical signals from outside the cell to the cell nucleus. Researchers have not determined how mutations in the PKHD1 gene lead to the formation of numerous cysts characteristic of polycystic kidney disease.

Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. These cases are called acquired polycystic kidney disease. This form of the disorder occurs most often in people with other types of kidney disease who have been treated for several years with hemodialysis (a procedure that filters waste products from the blood).

Inheritance

Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the or gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from a new mutation in one of the genes and occur in people with no history of the disorder in their family.

Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other genes that have not been identified.

Polycystic kidney disease also can be inherited in an autosomal recessive pattern. People with this form of the condition have two altered copies of the gene in each cell. The parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006 Jan;85(1):1-21. doi: 10.1097/01.md.0000200165.90373.9a. Citation on PubMed

Boucher C, Sandford R. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Eur J Hum Genet. 2004 May;12(5):347-54. doi: 10.1038/sj.ejhg.5201162. Citation on PubMed

Eccles MR, Stayner CA. Polycystic kidney disease - where gene dosage counts. F1000Prime Rep. 2014 Apr 1;6:24. doi: 10.12703/P6-24. eCollection 2014. Citation on PubMed or Free article on PubMed Central

Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. 2002 Jan 10 [updated 2022 Sep 29]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK1246/ Citation on PubMed

Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, Torra R, Breuning M, Ravine D. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. 1999 Jan 9;353(9147):103-7. doi: 10.1016/s0140-6736(98)03495-3. Citation on PubMed

Horie S. ADPKD: molecular characterization and quest for treatment. Clin Exp Nephrol. 2005 Dec;9(4):282-291. doi: 10.1007/s10157-005-0367-6. Citation on PubMed

Igarashi P, Somlo S. Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol. 2002 Sep;13(9):2384-98. doi: 10.1097/01.asn.0000028643.17901.42. No abstract available. Citation on PubMed

Lina F, Satlinb LM. Polycystic kidney disease: the cilium as a common pathway in cystogenesis. Curr Opin Pediatr. 2004 Apr;16(2):171-6. doi: 10.1097/00008480-200404000-00010. Citation on PubMed

Sweeney WE Jr, Avner ED. Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy. Pediatr Res. 2014 Jan;75(1-2):148-57. doi: 10.1038/pr.2013.191. Epub 2013 Oct 31. Citation on PubMed or Free article on PubMed Central

Sweeney WE, Avner ED. Polycystic Kidney Disease, Autosomal Recessive. 2001 Jul 19 [updated 2019 Feb 14]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK1326/ Citation on PubMed

Tahvanainen E, Tahvanainen P, Kaariainen H, Hockerstedt K. Polycystic liver and kidney diseases. Ann Med. 2005;37(8):546-55. doi: 10.1080/07853890500389181. Citation on PubMed

Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350(2):151-64. doi: 10.1056/NEJMra022161. No abstract available. Citation on PubMed

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Polycystic kidney disease: MedlinePlus Genetics

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To use the sharing features on this page, please enable JavaScript. Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood.