About 600,00 in the United States are estimated to have polycystic kidney disease (PKD). PKD is a genetic disorder that causes cysts to grow in the kidneys. PKD cysts can change the shape of the kidneys, including making them larger. This disease can also cause other health complications, such as cysts in the liver, hypertension, and problems with blood vessels.
Both women and men are equally at risk for PKD, and the disease causes about 5% of all kidney failure cases. Most people with PKD do not begin to experience symptoms until they reach 30-40 years old. There are two main types of PKD, which we discuss in more detail in this article.
Key Points
- Polycystic kidney disease (PKD) is an incurable genetic disorder that causes cysts to grow inside the kidneys.
- There are two main types of PKD: autosomal recessive polycystic disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD).
- Treatment focuses on slowing the progression of kidney failure and treating any associated conditions of PKD.
Polycystic Kidney Disease Overview
Polycystic kidney disease (PKD) is a genetic disorder that causes cysts to grow inside the kidneys. These cysts are filled with fluid, and if too many cysts grow or become too large, they cause damage to the kidneys.
There are two types of PKD: autosomal dominant PKD and autosomal recessive PKD.
Autosomal dominant PKD
ADPKD is the most common type of PKD, representing 90% of all PKD cases. It causes cysts to grow in the kidneys and can affect other organs, such as the liver. ADPKD is caused by a mutation (an unintended change or “typo”) in either the PKD1 or PKD2 genes. This genetic mutation runs in families and does not miss a generation, meaning it often affects several people in one family. Only one copy of the mutated gene is required to have ADPKD.
Symptoms typically begin between 30 and 50 years old and include:
- Hypertension (high blood pressure)
- Kidney stones
- Headaches
- Pain in the sides and back
- Blood in the urine
- Urinary tract infections (UTIs)
About 50% of people with ADPKD will have kidney failure by the time they reach 70 years old. Health problems that ADPKD can cause include:
- Cysts in the pancreas or liver
- UTIs
- Kidney Pain
- High blood pressure
- Kidney failure or ESRD
- Colon problems
- Brain aneurysms
- Heart problems
- Preeclampsia (type of high blood pressure during pregnancy)
Autosomal recessive PKD
ARPKD is a less common type of PKD compared to ADPKD. It also causes cysts to grow in the kidneys and affects other organs in the body, such as the liver. ARPKD results from a mutation in a gene called PKHD1 that is passed down from the mother and father to the child. Thus, both parents need to be carriers of the PKHD1 gene.
ARPKD can be deadly for newborn babies, and more than 50% of children with ARPKD will have kidney failure by the time they reach 15 to 20 years old. ARPKD symptoms can begin before a baby is born, at birth, or during childhood.
Symptoms of ARPKD before a baby is born include the baby having larger than normal kidneys or not having enough amniotic fluid around the baby. During the middle to later months of pregnancy, the baby’s kidneys make amniotic fluid. Thus, if the kidneys are damaged before birth, they cannot make enough amniotic fluid.
Symptoms at birth include:
- Breathing problems
- Swollen belly
- Problems with how the baby’s arms, legs, and face grows
- Throwing up formula or breast milk after feeding
- Hypertension (high blood pressure)
Symptoms in childhood include:
- Hypertension
- UTIs
- Lower than average weight and height
- Varicose veins
- Pain in the back or side
Other health problems that ARPKD can cause include:
- Hypertension
- Liver damage that worsens over time
- Kidney failure
- UTIs
- Fatalities in babies with severe ARPKD
How Polycystic Kidney Disease is Diagnosed
ADPKD is diagnosed using imaging tests such as ultrasound, MRI scans, and CT scans to identify any visible signs of cysts in the kidney. Genetic tests are used to look for and identify the gene that causes ADPKD.
ARPKD is diagnosed with genetic testing or an ultrasound of the fetus (which shows enlarged kidneys). Genetic testing identifies changes in the PKHD1 gene; if you have this gene but do not have APRKD, you are called a “carrier.”
Treatment for Polycystic Kidney Disease
ADPKD
ADPKD has no cure, but treatment is intended to help manage symptoms and associated health conditions. Symptom management is focused on alleviating eGFR loss. In 2018, the FDA approved the first drug that has been shown to slow down the progression of ADPKD to kidney failure. The new drug is prescribed for adults with ADPKD who are at risk for rapidly progressing ADPKD. The drug works by regulating the level of water and sodium in the body; it also reduces the growth and development of kidney cysts.
There may be clinical trials studying treatments for ADPKD for which candidates may meet the requirements.
ARPKD
Like ADPKD, there is no cure for ARPKD. Treatment strategies help manage health problems and symptoms associated with ARPKD. This is how the following complications of ARPKD are treated:
- High blood pressure. High blood pressure is controlled with medications and, if managed, can help delay kidney failure.
- Enlarged kidney. Kidney enlargement cannot be reversed or prevented. The enlarged kidney(s) may need to be removed if they are impacting the child or infant’s ability to breathe. Children without two working kidneys will need a kidney transplant or dialysis.
- Breathing problems. Children or infants with breathing problems can be treated with artificial ventilation, allowing them to breathe with the help of a machine.
- Growth failure. Growth failure can be treated with nutritional therapy, or in severe cases, treatment with growth hormone may be considered.
- Kidney failure. Children with kidney failure can receive either dialysis treatment or a kidney transplant. Peritoneal dialysis is the preferred dialysis method in children.
- Liver problems. If serious liver disease results, some children may need both a kidney and liver transplant.
There may be clinical trials that are studying treatments for ARPKD that your child or you may be eligible to participate in.
What can I do to Slow Down Polycystic Kidney Disease?
Once you have received an ADPKD diagnosis, it will be important to understand your risk for progressing to kidney failure and how to slow down disease progression and keep the kidneys working for longer. Steps to help slow the damage to the kidneys may include:
- Working with your doctor and care team to manage and prevent associated conditions such as hypertension (high blood pressure) and diabetes.
- Maintaining a healthy weight
- Taking medications as prescribed
- Drinking less alcohol
- Getting in 30 minutes of exercise most days
- Following a kidney-friendly eating plan
- Quitting smoking or using tobacco products
Panoramic Health
Panoramic Health is the leading integrated provider group delivering the future of kidney care. Our mission is to improve outcomes for patients by slowing disease progression and improving their quality of life. We do this through the distinctive capabilities of our comprehensive care model, which brings together an integrated provider group with operational support, clinical support, and data & analytics at scale.
Through partnerships with practices, providers, payers, and health systems, we work to advance the usage of clinically validated best practices and cutting-edge data analytics across a continuum of reimbursement models.
*No information presented here should be construed as medical advice. Every patient is unique, and patients should consult a qualified physician to determine what is best for them.
