09/26/2024 | Press release | Distributed by Public on 09/26/2024 12:15
Key takeaways:
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney condition. It damages the kidneys by causing many cysts to form in them.
Adult polycystic kidney disease often runs in families. If one parent has the genetic mutation that causes ADPKD, each child has a 50% chance of developing the disease.
If you have a family history of ADPKD, genetic testing can figure out if you carry the gene that causes it.
Polycystic kidney disease (PKD) is a hereditary condition that causes many cysts to form in the kidneys. These cysts can change the shape and function of the kidneys. And this can lead to serious complications. There are two types: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease - a rare, but serious condition affecting infants.
ADPKD affects about 1 in every 400 people in the U.S. It's one of the most common inherited disorders. This means the condition is passed down the bloodline from parent to child. But most people aren't diagnosed until their adult years - usually between the ages of 30 and 50. That's why it's called "adult" polycystic kidney disease.
When someone inherits ADPKD, it's passed down directly from one parent. Only one parent has to carry the mutation for either the PKD1 or PKD2 gene. The genes someone gets from their other parent could be completely normal.
Causes and symptoms of polycystic kidney disease: This comprehensive guide will help you learn all you need to know about autosomal dominant polycystic kidney disease (ADPKD).
Risk factors for ADPKD: Find out who's at highest risk for polycystic kidney disease.
Chronic kidney disease: ADPKD is just one of the many causes of chronic kidney disease.
If one parent has the ADPKD mutation, there's a 50% chance of developing the condition. If both have the mutation, the likelihood rises to 75%.
PKD genetic testing can help identify gene mutations that cause PKD. The test analyzes the DNA from either a blood or saliva sample.
Genetic testing and counseling are important when you have a family history of polycystic kidney disease. It's helpful in identifying if you have one of the mutations that increases your risk of developing the disease.
It's also useful when you have a new diagnosis of kidney disease. Genetic testing can help to determine the cause of your kidney disease when there's no family history of PKD. It's also helpful if you have different symptoms than others in your family with PKD.
ADPKD is caused by a genetic mutation (change) in the PKD1 or PKD2 gene. These genes make proteins that lead to the normal development and function of the kidneys. About 85% of people with ADPKD have a mutation in PKD1. PKD2 mutations are much less common.
In most cases, this gene mutation is passed down from someone's parents. In rare cases, someone may not receive the mutation from their parents. It can just happen on its own.
People with a family history of polycystic kidney disease are most at risk. The gene mutation for adult polycystic kidney disease can happen to anyone. For the most part, all groups seem to have similar rates of the disease.
But there are some studies that show Black adults are particularly at risk for more serious complications. And the speed at which ADPKD advances to kidney failure seems much higher in Black people. The reason for this is unknown. It may be due to many factors, including barriers to diagnosis and treatment as well as higher rates of other chronic illnesses.
Research is ongoing to study why certain groups of people with adult polycystic kidney disease seem to have worse outcomes than others.
Symptoms of ADPKD can look different from person to person. Some of the most common symptoms can include:
Pain in the back or side
Blood in the urine
High blood pressure
Frequent urinary tract infections (UTIs)
Growing belly size
ADPKD is different from other kidney diseases because it's hereditary. In fact, it's the most common genetic kidney disease. But it doesn't occur as often as other forms of chronic kidney disease.
Most chronic kidney disease is not hereditary. Instead, it's often a result of other long-term health problems. High blood pressure and diabetes are the leading causes of kidney failure in the U.S. High blood pressure isn't the cause of adult polycystic kidney disease but often leads to it.
ADPKD and other chronic kidney diseases are similar in that they lead to kidney failure. But with the gene mutation of ADPKD, people may also have other conditions outside of the kidney. And this typically doesn't happen in other chronic kidney diseases.
If you have adult polycystic kidney disease, you may also be at risk for other conditions, like:
Aneurysm (bulging blood vessels in the brain or aorta)
Liver cysts
Diverticulosis
Heart valve abnormalities
Hernias
Pregnancy complications
Having the gene mutation means you'll develop ADPKD at some point. And you can't prevent the disease from developing. That's because ADPKD is a genetic disease passed directly from parent to child. And it doesn't ever skip a generation. But not everyone has a severe form of the disease. It varies from person to person.
Even if people in your family have serious complications, that doesn't mean you will. Many people go their entire lives without symptoms and have a mild form of the disease. This may be especially true if you have the PKD2 gene mutation. People with this mutation tend to have a form of ADPKD that's less aggressive and may avoid kidney failure altogether.
Although you can't prevent it from developing, there are treatment options to keep the disease from worsening. These include:
Taking medication, like tolvaptan (Jynarque)
Managing your blood pressure
Avoiding smoking
Drinking water
Exercising regularly
Limiting your salt intake
These treatment options may help to keep your kidneys working as long as possible. Your healthcare team will help to create a treatment plan that's best for you.
This will vary depending on the severity of the PKD and any complications that develop. Some people have mild PKD with few symptoms. About half of all people with ADPKD will go on to develop kidney failure by the time they are 60 years old. This means they'll need dialysis or kidney transplant. But with proper treatment, it's possible to live a full life with PKD.
It's possible to have polycystic kidney disease without knowing. That's because there are often nonspecific symptoms in the early stages of PKD. Symptoms don't typically develop until the cysts have grown to at least a half inch in size or more.
In about 10% of cases, there's no family history of ADPKD at all. While PKD is a genetic condition that's typically inherited, there are some cases where the genetic mutation is not passed down and happens on its own.
Polycystic kidney disease (PKD) is one of the most common conditions that can run in the family bloodline. Autosomal dominant polycystic kidney disease (ADPKD) is the most common type. In some people, there are few symptoms. But, in many people, it can lead to serious complications, like kidney failure.
That's why it's important to know your family history. If you have a family history of polycystic kidney disease, talk with a healthcare professional about genetic testing.
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Aung, T. T., et al. (2021). Autosomal dominant polycystic kidney disease prevalence among a racially diverse United States population, 2002 through 2018. Kidney 360.
Braun, W. E., et al. (2018). ADPKD progression in patients with no apparent family history and no mutation detected by sanger sequencing. American Journal of Kidney Diseases.
Centers for Disease Control and Prevention. (2022). Chronic kidney disease basics.
Dahl, N. (2022). PKD genetic testing: What to know. Polycystic Kidney Disease Foundation.
Mahboob, M., et al. (2024). Autosomal dominant polycystic kidney disease. StatPearls.
National Institute of Diabetes and Digestive and Kidney Diseases. (2017). Autosomal dominant polycystic kidney disease.
National Institute of Diabetes and Digestive and Kidney Diseases. (2017). What is polycystic kidney disease?
National Kidney Foundation. (n.d.). Polycystic kidney disease.
National Organization for Rare Disorders. (2015). Autosomal dominant polycystic kidney disease.
Polycystic Kidney Disease Foundation. (2021). What causes ADPKD?
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