What Is Polycystic Kidney Disease? | Adult & Pediactric Urology | Omaha

What Is Polycystic Kidney Disease?

Polycystic kidney disease (PKD) is a genetic disease (passed from an affected parent to their child) causing uncontrolled growth of cysts in the kidney eventually leading to kidney failure. It affects all racial and ethnic groups equally.

There are two types of PKD: autosomal dominant (ADPKD) and autosomal recessive (ARPKD). ADPKD is the more common type and affects more than 600,000 Americans and 12.4 million people worldwide. ARPKD is a rare form of the disease that occurs in 1 in 20,000 children worldwide.

Polycystic Kidney Disease

Many people live with PKD for years without experiencing symptoms associated with the disease. Cysts typically grow 0.5 inches or larger before a person starts noticing symptoms. Initial symptoms associated with PKD can include:

  • pain or tenderness in the abdomen
  • blood in the urine
  • frequent urination
  • pain in the sides
  • urinary tract infection (UTI)
  • kidney stones
  • pain or heaviness in the back
  • skin that bruises easily
  • pale skin color
  • fatigue
  • joint pain
  • nail abnormalities

Children with autosomal recessive PKD may have symptoms that include:

  • high blood pressure
  • UTI
  • frequent urination

Symptoms in children may resemble other disorders. It’s important to get medical attention for a child experiencing any of the symptoms listed above.

What causes PKD?

A gene mutation, or defect, causes PKD. In most PKD cases, a child got the gene mutation from a parent. In a small number of PKD cases, the gene mutation developed on its own, without either parent carrying a copy of the mutated gene. This type of mutation is called “spontaneous.”

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.

How is polycystic kidney disease diagnosed?

Because ADPKD and ARPKD are inherited, your doctor will review your family history. They may initially order a complete blood count to look for anemia or signs of infection and a urinalysis to look for blood, bacteria, or protein in your urine.

To diagnose all three types of PKD, your doctor may use imaging tests to look for cysts of the kidney, liver, and other organs. Imaging tests used to diagnose PKD include:

  • Abdominal ultrasound. This noninvasive test uses sound waves to look at your kidneys for cysts.
  • Abdominal CT scan. This test can detect smaller cysts in the kidneys.
  • Abdominal MRI scan. This MRI uses strong magnets to image your body to visualize kidney structure and look for cysts.
  • Intravenous pyelogram. This test uses a dye to make your blood vessels show up more clearly on an X-ray.

What’s the treatment for polycystic kidney disease?

The goal of PKD treatment is to manage symptoms and avoid complications. Controlling high blood pressure is the most important part of treatment.

Some of the treatment options may include:

  • pain medication, except ibuprofen (Advil), which isn’t recommended since it may worsen kidney disease
  • blood pressure medication
  • antibiotics to treat UTIs
  • a low-sodium diet
  • diuretics to help remove excess fluid from the body
  • surgery to drain cysts and help relieve discomfort

With advanced PKD that causes renal failure, dialysis and kidney transplant may be necessary. One or both of the kidneys may need to be removed.

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