Children's Hospital Colorado

Polycystic Kidney Disease (PKD)

What is polycystic kidney disease (PKD)?

Polycystic kidneys are kidneys that contain cysts, which are fluid-filled sacs. Cysts can range in size from small (not visible on imaging like an ultrasound) to very large (almost the size of the kidney itself). The size and number of cysts affect whether the kidney is functioning normally.

There are several types of polycystic kidney disease, most notably autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). Other types of PKD also exist, at times associated with abnormalities in other organ systems.

Kidneys with cysts are not always called polycystic kidneys. Depending on their specific appearance and other circumstances, such kidneys may also be diagnosed as multicystic dysplastic kidneys or cystic dysplastic kidneys.

What causes polycystic kidneys?

ADPKD and ARPKD are caused by genetic mutations. These mutations can be inherited, meaning there may be a family history of PKD, or they can be new genetic changes.

Genes are made from deoxyribonucleic acid (DNA), which forms a blueprint that tells our body how to form and function. Polycystic kidneys associated with other conditions can also be related to gene mutations.

When might kids develop polycystic kidneys?

Because our genes don't change substantially over our lifetime, many conditions that involve polycystic kidneys are congenital, which means they are present at birth. However, cysts take time to grow and increase in number, which means even if a child has a congenital condition that causes polycystic kidneys, they may not know it for decades.

Although less common, some injuries to previously healthy kidneys can also cause cysts.

Who gets polycystic kidneys?

Polycystic kidneys are often a symptom of a genetic disease. The genetic changes causing ADPKD and ARPKD affect all genders and ethnicities the same.

What are the signs and symptoms of polycystic kidneys?

The signs and symptoms of polycystic kidneys depend on size, number and location of the cysts.

Children with a few small cysts can have kidneys that function well and don’t show any signs or symptoms, so they may go undiagnosed.

Large cysts can cause abdominal pain, discomfort and can affect the way in which the kidneys and urinary tract function. If the cysts are large enough, your child's doctor may feel them on a physical exam and then request an ultrasound, which can produce images of the inside of the abdomen using high-frequency sound waves.

When the cysts on the kidney are affecting kidney function, signs and symptoms can include:

  • High blood pressure causing headaches
  • Anemia (low red blood cell count) causing fatigue
  • Extra protein in the urine, which can be discovered through a urine test
  • Poor growth

What tests are used to diagnose polycystic kidneys?

Kidney imaging, typically using an ultrasound, will reveal whether your child has polycystic kidneys. If your child's doctor thinks the cysts are affecting kidney function, they will perform blood and urine tests, which will tell us how well your child's kidney is functioning.

How do we diagnose polycystic kidney disease?

We can diagnose polycystic kidneys with an imaging test such as an ultrasound. While many other kidney diseases require a kidney biopsy to confirm a diagnosis, a simple imaging test is usually enough to diagnose PKD. Depending on the circumstances, we may also test the blood and urine testing to assess the function of the kidneys. Your child's doctor will design a treatment plan based on this information.

We may also suggest genetic testing for your child and any other siblings to determine if they might have inherited the disease as well.

Polycystic kidney disease treatment

At Children's Hospital Colorado, we develop an individualized treatment plan based on the underlying disease that is causing the cysts, how the cysts are affecting kidney function and if other organs are being affected.

If your child is experiencing decreased kidney function, high blood pressure or proteinuria (high amount of proteins in the urine), doctors often recommend medications. Medication will slow the progression toward kidney failure, which would then require dialysis or kidney transplantation.

Why choose us for polycystic kidney disease treatment?

Pediatric experts in The Kidney Center at Children's Colorado have vast experience diagnosing and treating polycystic kidney conditions that occur in children. This experience ranges from consultations for parents whose baby has kidney cysts on prenatal ultrasounds, often in our Colorado Fetal Care Center, to providing dialysis and kidney transplantation through our Kidney Transplant Program.

For children who have polycystic kidney disease severe enough to require dialysis or transplantation, we offer the only dedicated pediatric dialysis facility and the only Kidney Transplant Program in the Rocky Mountain region. What's more, our Program is one of the biggest in the country. Additionally, we collaborate closely with the adult nephrology division at the University of Colorado, which has an internationally recognized PKD program featuring state-of-the-art treatments and research studies.

  • The PKD Network is a community of people dedicated to increasing awareness, collaboration and information-sharing to improve the outcomes for individuals with about PKD.
  • The PKD Foundation is the only organization in the U.S. solely dedicated to finding treatments and a cure for PKD through funding research, education, advocacy, support and awareness on a national and local level.
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