A healthy kidney (left) eliminates waste from the blood and maintains the body's chemical balance. With polycystic kidney disease (right), fluid-filled sacs called cysts develop in the kidneys. The kidneys grow larger and gradually lose the ability to function as they should.
Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys.
Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure.
PKD varies greatly in its severity, and some complications are preventable. Lifestyle changes and treatments might help reduce damage to your kidneys from complications.
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Polycystic kidney disease symptoms can include:
- High blood pressure
- Back or side pain
- Blood in your urine
- A feeling of fullness in your abdomen
- Increased size of your abdomen due to enlarged kidneys
- 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 knowing it.
If you develop some of the signs and symptoms of polycystic kidney disease, see your doctor. If you have a first-degree relative — parent, sibling or child — with polycystic kidney disease, see your doctor to discuss screening for this disorder.
Autosomal dominant inheritance pattern
In an autosomal dominant disorder, the altered gene is a dominant gene located on one of the nonsex chromosomes, called autosomes. You need only one altered gene to be affected by this type of disorder. A person with an autosomal dominant disorder — in this case, the father — has a 50% chance of having an affected child with one altered gene. The altered gene is known as the dominant gene. The person has a 50% chance of having an unaffected child with two typical genes, known as recessive genes.
Autosomal recessive inheritance pattern
To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. You get one from each parent. Their health is rarely affected because they have only one changed gene. Two carriers have a 25% chance of having an unaffected child with two unaffected genes (left). They have a 50% chance of having an unaffected child who also is a carrier (middle). They have a 25% chance of having an affected child with two changed genes (right).
Abnormal genes cause polycystic kidney disease, which means that in most cases, the disease runs in families. Sometimes, a genetic mutation occurs on its own (spontaneous), so that neither parent has a copy of the mutated gene.
The two main types of polycystic kidney disease, caused by different genetic flaws, are:
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 for it to pass to the children. If one parent has ADPKD, each child has a 50% chance of getting the disease. This form accounts for most of the 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% chance of getting the disease.
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 strokes.
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.
PKD 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) disease may result, necessitating ongoing kidney dialysis or a transplant to prolong your life.
- 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.
- 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. Female hormones and multiple pregnancies might contribute to liver cyst development.
- 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 aneurysms. People with a family history of aneurysms seem to be at highest risk. Ask your doctor if screening is needed in your case. If screening reveals that you don't have an aneurysm, your doctor may recommend repeating the screening exam in a few years or after several years as a follow-up. The timing of repeat screening depends on your risk.
- 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 have high blood pressure or a decline in kidney function before they become pregnant.
- Heart valve abnormalities. As many as 1 in 4 adults with polycystic kidney disease develops mitral valve prolapse. When this happens, the heart 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.
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.
- If you smoke, quit.
- Exercise regularly. Aim for at least 30 minutes of moderate physical activity most days of the week.
- Limit alcohol use.
Nov. 24, 2022