Autosomal Dominant Polycystic Kidney Disease: Symptoms, Causes, Diagnosis, Treatment

Medically Reviewed by Dr. K on 12 April 2021

Table of Contents:

 

  1. What Is Autosomal Dominant Polycystic Kidney Disease?
  2. Causes
  3. Symptoms
  4. Diagnosis
  5. Questions to Ask Your Doctor
  6. Treatment
  7. Complications
  8. Taking Care of Yourself
  9. Coping and support for PKD
  10. Reproductive support
  11. Kidney failure and transplant options
  12. Outlook

 

Autosomal Dominant Polycystic Kidney Disease

 

What Is Autosomal Dominant Polycystic Kidney Disease?

When you have autosomal dominant polycystic kidney disease (ADPKD), your kidneys develop many fluid-filled sacs called cysts. Cysts prevent the kidneys from performing as they should. High blood pressure, infections, and kidney stones may all result from this. It can even lead to kidney failure, but this is not always the case.

It is possible to have ADPKD and be completely unaware of it for a long time. Since the signs normally do not start until people are in their 30s or 40s, it’s known as “adult PKD". However, ADPKD can cause kidney damage over time.

Making healthy habits a part of your life, particularly those that help you lower and then control your blood pressure, and taking medications as needed, can help slow the damage and avoid some complications. You can live an active life for several years if you manage your symptoms and collaborate with your doctor, depending on the type of ADPKD you have. Since there is no cure, scientists are working to find new therapies.

Causes

ADPKD is caused by a problem with either the PKD1 or PKD2 genes in your DNA. These genes cause kidney cells to produce proteins that tell them when to develop. Kidney cells that develop out of control and form cysts may be caused by a problem with either gene.

Many genetic diseases are caused by an individual inheriting defective genes from both parents, but ADPKD is caused by only one faulty gene. This is why this form of PKD is referred to as “autosomal dominant", implying that only one parent must pass on a defective gene.

Each child has a 50% risk of contracting the disease if one parent has it.

Even if none of your parents had ADPKD, you may develop the disease. This can occur when one of the PKD genes develops a defect on its own. However, it’s unusual for anyone to develop it in this way.

Symptoms

Symptoms do not appear in anyone with ADPKD. Those who do can go years without noticing anything. The majority of those who have the condition have high blood pressure. Infections of the urinary tract and kidney stones are also common.

Some indications of ADPKD include:

  • A burst cyst, a kidney stone, or a urinary tract infection that causes pain in your back or sides.
  • Urine with blood in it.
  • Swelling of the stomach.

Cysts may develop large enough to harm your kidneys and, in some cases, cause them to fail. If this occurs, you will encounter:

Diagnosis

If your doctor suspects a problem with your kidneys, they might refer you to a nephrologist, a kidney disease specialist. They will ask you a series of questions, such as:

  • What kind of signs and symptoms are you experiencing? 
  • When did they first begin?
  • How frequent do you have that feeling?
  • Do you know how high or low your blood pressure is?
  • Have you been experiencing some discomfort? If so, where is the pain?
  • Have you ever experienced kidney stones? How often do you get them?
  • Is there a member of your family who has been diagnosed with kidney disease?
  • Have you ever had a genetic test performed on you?

The doctor will perform a series of tests to obtain images of the kidneys and look for cysts. They might begin with an ultrasound, which creates an image of the inside of your body using sound waves. To scan for cysts that are too small to detect with an ultrasound, they may also use:

  • MRI. It creates images of organs and structures within your body using strong magnets and radio waves.
  • CT scan. It’s a high-powered X-ray that creates detailed images of the internal organs.

Doctors will check your DNA to see whether you have a PKD1 or PKD2 gene mutation. However, it is important to understand the test’s limitations. It can tell you whether you have the gene mutation, but it can’t tell you when you will start experiencing ADPKD symptoms. 

Questions to Ask Your Doctor

  • How will this illness affect me?
  • Do I need any additional tests?
  • Is it necessary for me to see a specialist?
  • What treatment options do I have?
  • Are there any adverse effects from the treatments?
  • What do you think my chances are in my case?
  • What should I do to ensure my kidneys are functioning properly?
  • Will my children be affected if I have children?
  • Is it necessary for my children to have a genetic test?

Treatment

Although there is no cure for ADPKD, it is possible to treat the disease’s symptoms and potentially avoid kidney failure. You may require:

  • Preventative medicine for kidney failure. Tolvaptan (Jynarque) may help adults with kidney disease who are on the verge of losing their function.
  • Medications to help you control your blood pressure
  • Antibiotics are used to treat infections of the urinary tract.
  • Pain relievers

If your kidneys fail, you’ll need dialysis, which involves filtering your blood and removing waste such as salt, excess water, and some chemicals using a pump. You may also join a kidney donation waiting list or obtain a kidney from a living donor. Consult your doctor to see if this is a viable choice for you.

Complications of PKD

 

In addition to the symptoms associated with PKD, problems can arise when cysts on the kidneys develop larger.

 

The following are examples of potential complications:

 

  • weakened areas in the walls of arteries, known as aortic or brain aneurysms
  • cysts on and in the liver
  • cysts in the pancreas and testicles
  • diverticula, or pouches or pockets in the wall of the colon
  • cataracts or blindness
  • liver disease
  • mitral valve prolapse
  • anemia, or insufficient red blood cells
  • bleeding or bursting of cysts
  • high blood pressure
  • liver failure
  • kidney stones
  • heart disease

 

Taking Care of Yourself

To protect your kidneys and keep them working as long as possible, it’s important to remain as healthy as possible. Carefully follow the doctor’s instructions. You should also maintain these habits in order to remain healthy:

Eat right. Maintain a nutritious, well-balanced diet. Salt should be consumed in moderation because it can increase blood pressure.

Stay active. Exercising will help you maintain a healthy weight and blood pressure. Just stay away from any contact sports that might damage your kidneys.

Don’t smoke. If you smoke, seek medical advice to help you stop. Smoking affects the blood vessels in the kidneys, increasing the risk of cyst formation.

Drink plenty of water. You can develop more cysts if you are dehydrated.

What to Expect

Cysts can take a long time to develop. They will grow much slower if your blood pressure is under control and you live a healthy lifestyle. They can, however, grow large enough to damage your kidneys over time. Some people develop kidney failure over time and need dialysis or a kidney transplant.

Which of your two PKD genes is defective can determine how easily the disease progresses. People with a PKD1 gene mutation are more likely to develop kidney failure compared to people with a PKD2 gene mutation.

Some health issues can be exacerbated by ADPKD such as:

  • A swelling in a blood vessel of the brain, called an aneurysm
  • Cysts on the liver and pancreas
  • Diverticulosis
  • Hernias
  • Heart valve diseases such as mitral valve prolapse and aortic regurgitation

Coping and support for PKD

 

For you and your family, a diagnosis of PKD can imply changes and considerations. When you’re diagnosed with PKD, and when you adjust to coping with it, you might feel a variety of emotions.

 

It may be beneficial to reach out to a support network of family and friends.

 

You might also want to see a dietitian. They may suggest lifestyle changes to help you maintain a healthy blood pressure and reduce the amount of work your kidneys have to do to filter and regulate electrolytes and sodium levels.

 

For people living with PKD, there are many organisations that provide help and information:

 

 

You may also inquire with your nephrologist or your dialysis centre about local support groups. These services are also available to someone who isn’t on dialysis.

 

If you aren’t ready to join a community group or don’t have the time, both of these organisations offer online services and platforms.

 

Reproductive support

 

Since PKD is a hereditary disease, your doctor can advise you to see a genetic counsellor. They will assist you in constructing a map of your family’s medical background in relation to PKD.

 

Genetic counselling could be a choice for you to consider before making important decisions, such as if your child is at risk for PKD.

 

Kidney failure and transplant options

 

Kidney failure is one of the most severe PKD complications. This happens as the kidneys can no longer:

 

  • filter waste products
  • maintain fluid balance
  • maintain blood pressure

 

When this happens, the doctor can talk to you about your choices, which could involve a kidney transplant or dialysis to act as artificial kidneys.

 

If your doctor decides to put you on a kidney donation waiting list, there are a few things that can dictate where you are placed. Many factors include your physical fitness, the prognosis for recovery, and the length of time you’ve been on dialysis.

 

An acquaintance or family may be able to help you by donating a kidney. For families that have a willing donor, this could be an alternative and individuals may survive on just one kidney and have little problems.

 

It may be daunting to decide whether to get a kidney transplant or give a kidney to someone who has kidney failure. Your nephrologist will assist you in weighing your choices. In the meantime, you should inquire about what drugs and therapies can help you survive as comfortably as possible.

 

According to the University of Iowa, the average kidney transplant allows for 10 to 12 years of kidney function.

 

Outlook

 

For the most part, PKD worsens over time for most cases. According to the National Kidney Foundation, 50% of individuals with PKD will have kidney disease by the age of 60. By the age of 70, this percentage would have risen to 60%. Since the kidneys are such vital organs, their loss can have a cascading effect on other organs, including the liver.

For years, proper medical treatment will help you treat PKD symptoms. You may be a successful match for a kidney transplant if you don’t have any other medical issues. If you have a family history with PKD and are hoping to have children, you can see a genetic counsellor.

Sources

Referenced on 11.4.2021

  1. https://www.webmd.com/a-to-z-guides/autosomal-dominant-polycystic-kidney-disease#1 
  2. National Human Genome Research Institute: “Learning About Autosomal Dominant Polycystic Kidney Disease."
  3. National Kidney Foundation: “Polycystic Kidney Disease."
  4. PKD International: “ADPKD."
  5. PKD Foundation: “Common Questions About How PKD Will Affect Your Health."
  6. Halvorson, C. International Journal of Nephrology and Renovascular Disease, June 2010.
  7. https://www.healthline.com/health/polycystic-kidney-disease#complications 
  8. Jynarque. (2018). accessdata.fda.gov/drugsatfda_docs/label/2018/204441lbl.pdf
  9. Kidney disease and transplant: Frequently asked questions. (n.d.).
    uihc.org/health-library/kidney-disease-and-transplant-frequently-asked-questions
  10. Mayo Clinic Staff. (2018). Polycystic kidney disease.
    mayoclinic.org/diseases-conditions/polycystic-kidney-disease/symptoms-causes/syc-20352820
  11. Polycystic kidney disease. (n.d.).
    kidney.org/atoz/content/polycystic
  12. Polycystic kidney disease (PKD). (2017). niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/all-content
  13. Sans-Atxer, L., & Joly, D. (2018). Tolvaptan in the treatment of autosomal dominant polycystic kidney disease: patient selection and special considerations. International journal of nephrology and renovascular disease, 11, 41–51. doi.org/10.2147/IJNRD.S125942

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