Let's talk about Autosomal Dominant Polycystic Kidney Disease, a hereditary disease that causes cysts in the kidneys.

Imagine that you are constantly experiencing pain in your back or side, or the doctor says that your blood pressure is a little high. We often forget about these things, thinking that they are normal. But sometimes what is hidden behind these things is a problem related to the kidneys that needs some attention. Today we are talking about such a condition, which can be well controlled if managed properly.

Simply put, what is ADPKD?

We call this Autosomal Dominant Polycystic Kidney Disease , or ADPKD for short. What happens is that inside your kidneys, there are lots of little fluid-filled sacs called cysts . As these cysts start to grow, the kidneys can't do their normal job of cleaning the blood properly.

This can lead to health problems like high blood pressure , urinary tract infections , and kidney stones. In some people, this condition can worsen over time, even leading to kidney failure. But it doesn't happen to everyone.

In many cases, people can live for years without knowing they have the disease. Symptoms usually begin to appear between the ages of 30 and 40. That's why it's also called "adult PKD."

What are the symptoms of this disease? How do we feel?

Not everyone with ADPKD will have symptoms. Some people may not know they have them for years. The most common symptoms among people with this condition are high blood pressure , frequent urinary tract infections , and kidney stones . Let's break these symptoms down.

Over time, these cysts can grow larger and damage the kidneys, leading to kidney failure in some people. If this happens, symptoms such as:

• Feeling tired and exhausted ( Fatigue )
• Frequent need to urinate
• Irregular menstrual cycles in women
• Nausea and vomiting
• Difficulty breathing
• Swelling of the ankles, hands, and feet
• Erectile dysfunction in men

Why does this kind of disease occur? Is it hereditary?

Yes, this is a hereditary disease . Simply put, this disease is caused by a defect in the genes in our body. To be precise, it is caused by a defect in one of the two genes called `PKD1` and `PKD2`. These genes are the ones that give the kidney cells the signal "when to grow". So when there is a defect in one of these genes, the kidney cells grow uncontrollably and the cysts we mentioned start to form.

For most hereditary diseases to develop, you need to inherit the defective gene from both your mother and father. But the special thing about ADPKD is that if you inherit this defective gene from just one parent, either your mother or your father , your child will develop the disease.

Very rarely, a person can develop the disease even if their parents do not have the disease, but it can also be caused by a new defect in a gene in their body. However, this is very rare.

How does the doctor diagnose this disease?

If your doctor thinks you may have a kidney problem based on your symptoms, he or she may refer you to a nephrologist . He or she will ask you questions like:

• What are your symptoms? When did they start?
• Do you know your blood pressure?
• Is there pain anywhere? If so, where is it?
• Does anyone in your family have kidney disease?
• Have you had a genetic test before?

Then, several tests are done to see if there are any cysts in the kidneys.

• Ultrasound Scan: This uses sound waves to create an image of the kidneys. This is often the first test done.
• MRI Scan or CT Scan: These more complex scans are used to find cysts that are too small to be seen with an ultrasound.

Additionally, your DNA can be tested to see if you have a defect in the `PKD1` or `PKD2` genes. However, while this test can tell whether you have the disease or not, it cannot predict when symptoms will appear or how severe they will be.

What should we do during treatment and at home?

There is no cure for ADPKD. However, the health problems caused by the disease can be treated and kidney failure can be prevented or delayed. You may need treatments such as:

• Medications that slow the progression of kidney failure: Medications like Tolvaptan (Jynarque) can help control the decline in kidney function in adults who are at risk of developing the disease more quickly.
• Medication for high blood pressure: Controlling blood pressure is extremely important.
• Antibiotics for urinary tract infections
• Painkillers

If your kidneys fail, you will need to undergo dialysis . This involves cleaning your blood with a machine. You may also be eligible for a kidney transplant . You should discuss this with your doctor to determine if this is right for you.

Habits we should follow to stay healthy

To protect your kidneys and keep them functioning well for as long as possible, it is very important to maintain a healthy lifestyle.

• Eat right: Eat a balanced diet that is low in salt. Salt can increase blood pressure.
• Stay active: Exercise can help control your weight and blood pressure. But stay away from contact sports, which can damage your kidneys.
• Avoid smoking: Smoking can damage the blood vessels in the kidneys and increase the risk of cysts forming.
• Drink plenty of water: Dehydration can increase the risk of cysts forming.

What can we expect going forward? Are there any other complications?

Cysts often grow very slowly. If you control your blood pressure and live a healthy lifestyle, you can keep this growth slow. But over the years, they can grow large enough to damage your kidneys.

The rate at which the disease progresses also depends on which gene you have (PKD1 or PKD2). In general, people with the PKD1 gene defect are at a higher risk of developing kidney failure than those with the PKD2 gene defect.

ADPKD also carries a risk of other health problems.

It's important to stay mentally strong when living with a disease like this. Talk to your family and friends about this. Also, stay in touch with your doctor and follow his advice exactly.

ADPKD, Polycystic Kidney Disease, Kidney Disease, Kidney Cysts, Kidney Cysts, Hereditary Diseases, High Blood Pressure, Kidney Failure