Do you have cysts in your kidneys? Let's talk about ADPKD (Autosomal Dominant Polycystic Kidney Disease)

Maybe someone in your family has kidney disease. Or maybe you've been diagnosed with high blood pressure in your 30s or 40s and are looking for a cause. Today we're talking about a slightly different, but very common, hereditary disease that affects the kidneys. This is medically called Autosomal Dominant Polycystic Kidney Disease. Since that's a bit too long for us, we'll call it ADPKD for short.

Simply put, what is ADPKD?

Simply put, this disease causes large amounts of fluid-filled cysts to form in your kidneys. Think of the kidneys as filters in our bodies. As these cysts grow, the kidneys can no longer function properly. This can lead to health problems like high blood pressure, urinary tract infections, and kidney stones. Although not everyone gets this condition, some people can even go as far as kidney failure.

One of the unique features of this disease is that you may not have any symptoms for years even if you have it. Symptoms often begin to appear between the ages of 30 and 40. That's why it's also called "adult PKD."

What are the symptoms of ADPKD?

Not everyone with ADPKD will develop symptoms. For some, it may take years for symptoms to appear. Let's look at some of the common symptoms associated with this disease. I'll break this down into two parts for you to understand.

Why does ADPKD occur? Is it hereditary?

Yes, this is a hereditary disease . The main cause of this is a defect in two genes in our DNA, namely `PKD1` and `PKD2`. These genes are the ones that give the signals to the kidney cells "when to grow". When there is a defect in one of these genes, the kidney cells grow uncontrollably and form those cysts that we mentioned.

Think about it, most hereditary diseases require a defective gene from both parents. But in ADPKD, the defective gene only needs to come from one parent . That's why it's called "autosomal dominant."

This means that if either of your parents has the disease, you have a 50% chance of developing it . However, very rarely, the disease can also occur due to a random change in a person's gene, without both parents having the disease.

How do you find out if you have this disease?

If your doctor suspects a kidney problem based on your symptoms, he or she may refer you to a kidney specialist (nephrologist). The doctor will ask you questions like:

• What are your symptoms and when did they start?
• Do you know your blood pressure?
• Is there pain anywhere? If so, where?
• Have you had kidney stones before?
• Does anyone in the family have kidney disease?

Then the doctor will order several tests to check your kidneys.

• Ultrasound Scan: This uses sound waves to take pictures of the inside of the body. This is often the first test done.
• MRI scan: A powerful scan that uses magnets and radio waves to detect tumors that are too small to be seen with ultrasound.
• CT Scan: Another powerful scanning method that uses X-rays to obtain detailed images of the body.

Additionally, your DNA can be tested to see if you have the defective gene `PKD1` or `PKD2`. However, while this genetic test can show whether you have the defective gene, it cannot predict when the disease will develop or how severe it will be .

Treatment and things you can do at home

There is no cure for ADPKD yet. But there are many things we can do to manage the health problems caused by the disease and prevent kidney failure.

Medical treatment

• Medications to slow kidney failure: For adults who are at risk of rapid progression of the disease, medications such as `Tolvaptan (Jynarque)` are given to slow the decline in kidney function.
• Medications that control high blood pressure.
• Antibiotics for urinary tract infections.
• Painkillers.

If your kidneys fail, you may need to undergo a treatment called dialysis . This involves using a machine to filter your blood, removing waste products, salt, and excess water from your body. Another option is a kidney transplant. Talk to your doctor about this to learn more.

Things you can do at home

To protect your kidneys and keep them functioning well for as long as possible, it's important to stay as healthy as possible.

• Proper diet: Eat a balanced diet low in salt. Salt can increase blood pressure.
• Stay active: Exercise can help control weight and blood pressure, but avoid contact sports, which can damage your kidneys.
• Avoid smoking: Smoking damages the blood vessels in the kidneys and can also increase the risk of cysts forming.
• Drink plenty of water: Dehydration can also cause cysts to form more frequently.

Other complications that may occur due to ADPKD

ADPKD can also increase the risk of other health problems, and it's important to be aware of these as well.

The rate at which the disease progresses depends on whether you have a defect in the `PKD1` or `PKD2` gene. In general, people with a defect in the `PKD1` gene are at risk of developing kidney failure sooner than those with a `PKD2` defect. So it's best to talk to your doctor to find out exactly what your condition is.

Kidney disease, ADPKD, Polycystic Kidney Disease, Kidney cysts, Hereditary diseases, High blood pressure, kidney failure