What is Polycystic Kidney Disease?


Anatomy of Kidney
Highlights
  • Polycystic kidney disease is caused by abnormalities in genes, meaning the disease is most commonly inherited.

  • There are two types of polycystic kidney disease, each of which is caused by a different genetic abnormality.

  • There’s currently no cure for PKD, but it’s usually very possible to lead a normal and active life with the condition.

Polycystic kidney disease (PKD) is a hereditary disorder that affects the function of the kidneys. This disease develops as clusters of cysts – noncancerous growths filled with fluid, pus, or other substances – grow within the kidneys and cause them to enlarge and become damaged.

PKD can spread to other organs – most commonly the liver – which can lead to further health complications. This condition is extremely serious, as issues such as high blood pressure and even kidney failure may occur as a result.

How Common is Polycystic Kidney Disease?

Polycystic kidney disease (PKD) is a prevalent genetic disorder, with an estimated 500,000 individuals in the United States being affected by it.

In terms of its occurrence, one of its types affects approximately one out of every 400 to 1,000 individuals worldwide, while the other type affects approximately one in 20,000 children.

What Causes Polycystic Kidney Disease?

Polycystic kidney disease is caused by abnormalities in genes, meaning the disease is most commonly inherited. In rare cases, a spontaneous genetic mutation can occur on its own and neither parent passes along the abnormal PKD gene. Types of polycystic kidney disease

There are two types of polycystic kidney disease, each of which is caused by a different genetic flaw.

The first is autosomal dominant polycystic kidney disease (ADPKD), in which symptoms typically develop between the ages of 30 and 40. This being said, it’s possible for children to develop this condition.

ADPKD is the most common form of this disorder because only one parent needs to have the disease for it to be passed to their children. This means that if one parent has ADPKD, each child has a 50% chance of also getting it.

Autosomal recessive polycystic kidney disease (ARPKD) is the second type of the condition, and it’s much rarer. Symptoms usually arrive shortly after birth, but have been known to show up in early adolescence in some cases.

In order to be passed down this form of the condition, both parents must have abnormal genes. If both parents have the disorder, each child has a 25% chance of getting ARPKD.

Who is Most Likely to Develop Polycystic Kidney Disease?

PKD can affect people of any age, gender, or ethnicity.

However, since this disorder is genetic, those with a family history of PKD are at a higher risk of developing the condition.

Specifically, if a first-degree relative – such as a parent or sibling – has PKD, the chances of developing the disease increase.

Additionally, certain genetic mutations have been associated with an increased risk of developing PKD.

What are the Symptoms of Polycystic Kidney Disease?

While symptoms and signs of PKD can arise at different points of life, they are the same for both types of the disease. Symptoms typically include:

  • Hypertension (high blood pressure)

  • Back and/or side pain

  • Hematuria (blood in urine)

  • Headaches

  • UTIs and/or kidney infections

  • Feelings of fullness in the abdomen

  • Increased size of abdomen (due to enlarged kidneys)

  • Kidney stones

  • Kidney failure

Are There Any Potential Complications?

Complications aren’t uncommon with polycystic kidney disease, but they range in severity. Most people diagnosed with PKD complain of pain – which is why it’s normally the identifying sign of diagnosis. Pain can also be associated with a urinary tract infection, a kidney stone, or a malignancy.

Another common complication is high blood pressure, which can lead to further damage of the kidneys and increase the risk of stroke, heart disease, and other life-threatening cardiovascular issues.

It’s likely to develop cysts in the liver if you have PKD, and the likelihood increases with age. Both men and women alike develop cysts, but hormonal factors in women including pregnancy might contribute to cyst development in the liver.

Key Point: Can You Get Pregnant if You Have Polycystic Kidney Disease?

It’s possible for women with PKD to become pregnant, and it’s generally considered safe. Pregnancy is typically successful for women with the condition.

Be sure to talk to your medical provider if you become pregnant and have a PKD diagnosis, as preeclampsia – a life-threatening disorder – is more common in women with this genetic disorder.

Your provider can determine if you are at higher risk for developing preeclampsia.

Those with PKD are at a higher risk of developing a brain aneurysm – a balloon-like bulge in the brain that can rupture and cause hemorrhaging. It’s important to get aneurysm screenings often if you have been diagnosed with polycystic kidney disease, especially if you have a family history of aneurysms.

One of the most common and most serious complications of PKD is progressive loss of kidney function. Nearly half of diagnosed PKD patients experience kidney failure by age 60.

When Should You Seek Medical Advice?

It’s possible to have polycystic kidney disease and not be aware of it for years. In fact, it’s not that uncommon.

If you experience any symptoms relating to PKD or have a close family member who has been diagnosed with it, be sure to consult a medical professional immediately.

They may refer you to a nephrologist (a doctor who specializes in kidney health) so you can be further evaluated.

Is Polycystic Kidney Disease Treatable?

There’s currently no cure for PKD, but it’s usually very possible to lead a normal and active life with the condition.

It’s not possible to stop cysts from forming in the kidneys, but it is within reach to reduce the growth rate of cysts. Taking medications such as tolvaptan and treating the various problems that are associated with polycystic kidney disease are typically the most effective approach to do this.

Can You Prevent Polycystic Kidney Disease?

While it’s difficult to prevent polycystic kidney disease, as you have to be born with specific gene abnormalities to get it, prevention is possible for future generations.

This being said, you can manage your condition to avoid complications. By keeping your kidneys as healthy as possible, you may be able to avoid serious issues.

Some of the best ways to keep your kidneys healthy include:

  • Limiting alcohol use

  • Exercising regularly

  • Quitting smoking

  • Maintaining a healthy weight

  • Taking blood pressure medication as prescribed by your doctor

If you have PKD and you’re considering having children, you can seek counseling from a genetic specialist. They will help you assess the risk of passing the disease down to your children.

Where Can I Learn More About Polycystic Kidney Disease?

While LifeMD offers care to patients with chronic conditions, PKD is a serious condition that requires ongoing specialty care and extensive work from an in-person healthcare provider.

This being said, if you’re concerned about your kidney health, LifeMD may be able to help.

LifeMD can offer guidance on ways to maintain healthy habits that may support the management of your condition and avoid further complications.

Additionally, a licensed medical provider may be able to treat other conditions contributing to PKD – such as high blood pressure.

Your healthcare provider may offer guidance on effective ways to lower your blood pressure and/or prescribe the appropriate medication.

Make an appointment today to get started.

Dr. Banita Sehgal

Dr. Sehgal received her medical degree from Western University in Los Angeles and trained as Chief Resident at White Memorial Medical Center, also in Los Angeles. She’s been practicing medicine for 20+ years and has a specific interest in women’s health.

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This article is intended for informational purposes only and should not be considered medical advice. Consult a healthcare professional or call a doctor in the case of a medical emergency.

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