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Autosomal dominant polycystic kidney disease, or ADPKD, is a condition that runs in families. It causes fluid-filled pockets called cysts to grow on your kidneys. As these cysts get larger, they can damage your kidneys.
Without treatment, autosomal dominant polycystic kidney disease can cause complications like kidney failure. Medication and other treatments relieve symptoms and help to protect your kidneys.
The more you know about ADPKD, the easier it will be to work with your doctor to find the right treatment for you.
1. Polycystic kidney disease runs in families.
If you have polycystic kidney disease, there’s a good chance it runs in your family. The disease comes in two types:
- Autosomal dominant polycystic kidney disease
- Autosomal recessive polycystic kidney disease
Changes called mutations to the PKD1 or PKD2 gene appear in the autosomal dominant type. These genes tell your body to make proteins called polycystin-1 and polycystin-2, which help your kidney cells grow and work normally. When these genes mutate, cells lining the tiny tubes in your kidneys grow too much and form cysts.
Most people with PKD have the autosomal dominant type. Dominant means that only one of your parents needs to pass along the defective gene for you to get the disease.
Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. Recessive means that you need to inherit one copy of the abnormal gene from each parent to get the disease. You’re considered a carrier if you only have one copy of the gene, but you won’t have symptoms.
2. Symptoms progress with time.
Autosomal dominant polycystic kidney disease affects each person differently. Most people who have this condition first notice symptoms in their 30s or 40s. Kidney cysts are the main symptom.
Other autosomal dominant polycystic kidney disease symptoms include:
- Pain in the back and sides
- Headaches
- Urinary tract infections
- Blood in the urine
- High blood pressure
- Kidney stones
Some people with polycystic kidney disease also have a problem with their heart valves.
3. If PKD runs in your family, look into genetic testing.
Autosomal dominant polycystic kidney disease runs in families. So if you have an aunt, cousin, or parent with the disease, you may want to ask your doctor about getting a genetic test. The test checks a sample of your blood or saliva for the ADPKD gene mutation.
A gene test can show whether you’re likely to get polycystic kidney disease in the future. And if you already have symptoms, it can reveal which form of the disease you have.
4. You can’t prevent PKD symptoms.
Once you have the ADPKD gene, it’s impossible to stop the disease. But you can slow damage and prevent symptoms by taking good care of your kidneys.
Try to eat a low-fat, low-salt diet. Keep your weight at a healthy number for your height. Exercise for at least 30 minutes a day. And limit or avoid alcohol, which your kidneys have to filter.
5. You’ll see a few specialists.
Treating autosomal dominant polycystic kidney disease is a group effort. You’ll work with a few different health care providers to manage this condition.
Your PKD treatment team might include a:
- Primary care doctor
- Nephrologist: a doctor who treats diseases of the kidneys
- Radiologist: a specialist who uses imaging scans like computed tomography (CT) and magnetic resonance imaging (MRI) to diagnose you
- Dietitian
- Genetic counselor
6. Polycystic kidney disease isn’t curable, but you can treat it.
Doctors haven’t figured out a way to cure this disease, and there’s no way to stop cysts from forming. But treatments can help you manage autosomal dominant polycystic kidney disease symptoms and protect your kidneys.
Tolvaptan (Jynarque) is a new medication. It’s the first treatment to slow kidney damage and prevent kidney failure in people with PKD, and other similar therapies are coming down the pipeline. Your doctor may also prescribe other treatments to manage specific symptoms like high blood pressure, kidney stones, and pain. In advanced cases of ADPKD that jeopardize overall kidney function, a life-saving kidney transplant may be recommended. The new donor kidney will not develop polycystic kidney disease.
Everyone with autosomal dominant polycystic kidney disease is different. Your symptoms might progress slowly and not bother you for years. Or they could get worse quickly. It’s hard to predict how your disease will act. Taking good care of your kidneys and following your doctor’s advice will help to ensure that you have the best possible outcome.
