Polycystic kidney disease symptoms may include:
- High blood pressure
- Back or side pain
- Increase in the size of your abdomen
- Blood in your urine
- Frequent urination
- Kidney stones
- Kidney failure
- Urinary tract or kidney infections
When to see a doctor
It's not uncommon for people to have polycystic kidney disease for years without developing signs or symptoms and without knowing they have the disease.
If you have some of the signs and symptoms of polycystic kidney disease, see your doctor to determine what might be causing them. If you have a first-degree relative — parent, sibling or child — with polycystic kidney disease, see your doctor to discuss the pros and cons of screening for this disorder.
Abnormal genes cause polycystic kidney disease, and the genetic defects mean the disease runs in families. Rarely, a genetic mutation can be the cause of polycystic kidney disease.
There are two types of polycystic kidney disease, caused by different genetic flaws:
Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder.
Only one parent needs to have the disease in order for it to pass along to the children. If one parent has ADPKD, each child has a 50 percent chance of getting the disease. This form accounts for about 90 percent of cases of polycystic kidney disease.
Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than is ADPKD. The signs and symptoms often appear shortly after birth. Sometimes, symptoms don't appear until later in childhood or during adolescence.
Both parents must have abnormal genes to pass on this form of the disease. If both parents carry a gene for this disorder, each child has a 25 percent chance of getting the disease.
Researchers have identified two genes associated with ADPKD and one associated with ARPKD.
In some cases, a person with ADPKD has no known family history of the disease. However, it's possible that someone in the affected person's family actually did have the disease, but didn't show signs or symptoms before dying of other causes.
In a smaller percentage of cases where no family history is present, ADPKD results from a spontaneous gene mutation.
Complications associated with polycystic kidney disease include:
- High blood pressure. Elevated blood pressure is a common complication of polycystic kidney disease. Untreated, high blood pressure can cause further damage to your kidneys and increase your risk of heart disease and stroke.
Loss of kidney function. Progressive loss of kidney function is one of the most serious complications of polycystic kidney disease. Nearly half of those with the disease have kidney failure by age 60.
Polycystic kidney disease can interfere with the ability of your kidneys to keep wastes from building to toxic levels, a condition called uremia. As the disease worsens, end-stage kidney (renal) failure may result, necessitating ongoing kidney dialysis or a transplant to prolong your life.
- Pregnancy complications. Pregnancy is successful for most women with polycystic kidney disease. In some cases, however, women may develop a life-threatening disorder called preeclampsia. Those most at risk are women who have high blood pressure before they become pregnant.
- Growth of cysts in the liver. The likelihood of developing liver cysts for someone with polycystic kidney disease increases with age. While both men and women develop cysts, women often develop larger cysts. Cyst growth may be aided by female hormones.
Development of an aneurysm in the brain. A balloon-like bulge in a blood vessel (aneurysm) in your brain can cause bleeding (hemorrhage) if it ruptures. People with polycystic kidney disease have a higher risk of aneurysm, especially those younger than age 50.
The risk is higher if you have a family history of aneurysm or if you have uncontrolled high blood pressure.
- Heart valve abnormalities. As many as one in four adults with polycystic kidney disease develop mitral valve prolapse. When this happens, the valve no longer closes properly, which allows blood to leak backward.
- Colon problems. Weaknesses and pouches or sacs in the wall of the colon (diverticulosis) may develop in people with polycystic kidney disease.
- Chronic pain. Pain is a common symptom for people with polycystic kidney disease. It often occurs in your side or back. The pain can also be associated with a urinary tract infection, a kidney stone or a malignancy.
If you have polycystic kidney disease and you're considering having children, a genetic counselor can help you assess your risk of passing the disease to your offspring.
Keeping your kidneys as healthy as possible may help prevent some of the complications of this disease. One of the most important ways you can protect your kidneys is by managing your blood pressure.
Here are some tips for keeping your blood pressure in check:
- Take the blood pressure medications prescribed by your doctor as directed.
- Eat a low-salt diet containing plenty of fruits, vegetables and whole grains.
- Maintain a healthy weight. Ask your doctor what the right weight is for you.
- Quit smoking, if you're a smoker.
- Exercise regularly. Aim for at least 30 minutes of moderate physical activity most days of the week.