Symptoms and causes

Symptoms

Polycystic kidney disease symptoms can include:

  • High blood pressure
  • Back or side pain
  • Headache
  • A feeling of fullness in your abdomen
  • Increased size of your abdomen due to enlarged kidneys
  • Blood in your urine
  • 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.

Causes

Abnormal genes cause polycystic kidney disease, which means that in most cases, the disease runs in families. Rarely, 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 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.

Complications

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.

    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) 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 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. Female hormones might contribute to cyst development.
  • Development of an aneurysm in the brain. A balloonlike 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. People with a family history of aneurysm seem to be at highest risk.
  • Heart valve abnormalities. As many as 1 in 4 adults with polycystic kidney disease develops 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.