Polycystic Kidney Disease

What is polycystic kidney disease?

Polycystic kidney disease (PKD) causes cysts (fluid-filled growths) to develop in your kidneys. PKD is a genetic disorder, meaning you have to have a mutated (changed) gene to get it.

PKD isn’t the same as kidney cysts, which are usually harmless. Cysts from PKD can enlarge your kidneys and prevent them from filtering waste out of your blood. In severe cases, the cysts can increase the weight of your kidneys by up to 30 pounds.

PKD causes chronic kidney disease, which can progress to kidney failure. PKD accounts for about 2% of all cases of kidney failure in the United States. Most people with PKD will need dialysis or a kidney transplant.

If you receive a PKD diagnosis, it’s important to work with your healthcare provider on a treatment plan to manage complications of the disease.

Types of polycystic kidney disease

There are two types of polycystic kidney disease:

• Autosomal dominant polycystic kidney disease (ADPKD): ADPKD is the most common form of PKD. Most people receive an ADPKD diagnosis in adulthood between the ages of 30 and 50. But it can still occur in childhood or during your teenage years. You can get this type of PKD if just one biological parent has the gene mutation. People with ADPKD have a change in the genes PKD1 or PKD2.
• Autosomal recessive polycystic kidney disease (ARPKD): ARPKD is a rare form of PKD, also called infantile PKD. It causes abnormal kidney development during fetal development. Healthcare providers most often diagnose this type in a fetus during pregnancy or shortly after a baby is born. To get this type of PKD, both biological parents must have and pass along the PKHD1 gene mutation to their child.

How common is polycystic kidney disease?

About 500,000 people in the U.S. have PKD. It affects people of all ages, races and ethnicities. It occurs equally in people assigned male at birth (AMAB) and people assigned female at birth (AFAB).

ADPKD is far more common than ARKPD, affecting about 90% of people with PKD. ARPKD is extremely rare. It occurs in 1 out of 25,000 people.

What are the most common symptoms of polycystic kidney disease (PKD)?

Symptoms can vary depending on what type of PKD you have.

Signs of autosomal dominant polycystic kidney disease (ADPKD)

People with the dominant type of PKD often don’t show signs of the disease until they reach adulthood. You may not have symptoms until the cysts have grown large.

Symptoms of ADPKD include:

• Pain in your back or sides (flank pain).
• High blood pressure.
• Headaches.
• Hematuria (blood in your pee).
• Urinary tract infections (UTIs).
• Kidney stones.

Signs of autosomal recessive polycystic kidney disease (ARPKD)

People with the recessive type of PKD may show signs of the disease shortly after birth or in childhood. A pregnancy care provider may detect cysts on a fetus’s kidneys during a prenatal ultrasound.

Signs that a newborn may have ARPKD include:

• Low birth weight.
• Swollen abdomen.
• High blood pressure at birth.
• Breathing problems.

Signs of ARPKD in childhood could include:

• Growth failure
• Frequent UTIs.
• High blood pressure.
• Abdominal or low back pain.

Signs that a fetus may have ARPKD include:

• Larger than average kidneys.
• Low amniotic fluid level.

Will signs and symptoms of polycystic kidney disease always show up right away?

No. This disease is often clinically silent, with approximately one-half of cases being diagnosed during the person’s lifetime.

What causes polycystic kidney disease?

Genetic mutations cause polycystic kidney disease. Genes are the building blocks of your body. You get your genes from your biological parents. They help tell your body how to form and function. Sometimes, a gene mutates and doesn’t copy correctly during fetal development. If you have a gene mutation, you can pass it on to your biological children. This is what happens with most cases of PKD.

In rare cases, genes mutate or change at random without either biological parent carrying the gene.

What are the risk factors for this condition?

Since PKD is a genetic condition, you must have a parent that also has the condition.

What are the complications of polycystic kidney disease?

PKD can cause serious health complications for adults and babies. Some symptoms of PKD are also complications. These include:

• Kidney stones.
• High blood pressure.
• Urinary tract infections(UTIs).

Other complications of PKD include:

• Brain aneurysms.
• Colon issues like diverticulitis.
• Heart valve problems.
• Kidney failure.
• Liver cysts and pancreatic cysts.
• Preeclampsia (high blood pressure during pregnancy).

ARPKD can be fatal in babies who are born with a severe case of the disease. The first month of life is critical for babies born with ARKPD.

How is polycystic kidney disease diagnosed?

A nephrologist (healthcare provider specializing in kidney disorders) usually diagnoses PKD. They may order the following imaging exams to check your kidneys:

• Kidney ultrasound.
• Prenatal ultrasound (to diagnose PKD in a fetus).
• CT scan (computed tomography scan).
• MRI (magnetic resonance imaging).

A healthcare provider may also recommend genetic testing. A blood or saliva test can check for the mutated genes that cause PKD.

What is the treatment for polycystic kidney disease?

There’s no cure for PKD. The goal of treatment is to slow the progression of the disease and control the symptoms it causes. The most common treatments for PKD include:

• Blood pressure management: Your provider helps you manage your blood pressure with medicine, an eating plan and exercise. Keeping your blood pressure within a safe range reduces your risk of heart disease and stroke.
• Breathing support: Infants with underdeveloped lungs and breathing problems may need mechanical ventilation.
• Dialysis: If you have kidney failure, you may need dialysis (a procedure to clean your blood). Hemodialysis uses a machine to filter blood outside the body. Peritoneal dialysis uses the lining of your belly and a special fluid to filter blood.
• Growth therapy: Underweight infants may need help growing. A healthcare provider may recommend nutritional therapy or human growth hormone.
• Kidney transplant: You may need a kidney transplant if ADPKD progresses to kidney failure. A transplant is surgery to replace a failing kidney with a donor kidney.
• Pain management: Medicine can manage pain caused by infections, kidney stones or burst cysts. Your healthcare provider should approve any pain medicines you take. Some medicines can make kidney damage worse.

Is polycystic kidney disease preventable?

Polycystic kidney disease isn’t preventable. But you may be able to slow the disease or prevent kidney failure by practicing a healthy lifestyle. People with PKD who want to have biological children may consider talking to a genetic counselor.

What is the life expectancy of someone with polycystic kidney disease?

People with ADPKD can live long and full lives if they receive the proper treatment and manage the condition. About half of people with ADKPD will need dialysis or a kidney transplant due to kidney failure by age 70.

The outlook for children with ARPKD isn’t as positive. About one-third of all infants born with ARPKD don’t survive. Babies who do survive will likely need medical treatment for the rest of their lives. About half of children who survive infanthood will have kidney failure by age 15 to 20.

What can I do to make living with PKD easier?

Living a healthy lifestyle can go a long way in managing PKD. Some tips for healthy living include:

• Eat a kidney-friendly diet. A dietitian can talk to you about which foods to avoid.
• Exercise for 30 minutes most days.
• Maintain a weight that’s healthy for you.
• Manage blood pressure.
• Quit smoking or using tobacco.
• Avoid beverages containing alcohol.
• Reduce stress.
• Drink enough water and other noncaffeinated beverages.
• Get at least seven hours of sleep each night.
• Take all of your medication exactly as your provider prescribes.

When should I call a healthcare provider about PKD?

Contact a healthcare provider right away if you have PKD and are:

• Developing swollen legs, ankles or feet (edema).
• Having chest pain.
• Short of breath.
• Unable to pee.

What questions should I ask my healthcare provider?

It’s normal to have questions about your diagnosis. Some things you may ask your provider are:

• What type of PKD do I have?
• Can I pass PKD to my children?
• Are there any other tests I need?
• What’s the best treatment for me?
• Do I need to eat a low-salt diet?
• Should I alter my lifestyle in any way?
• Will I need dialysis or a kidney transplant?
• What side effects should I look out for?