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PKD

Introduction

Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which abnormal cysts develop and grow in the kidneys. Cystic disorders can express themselves at any point, infancy, childhood, or adulthood. The disease occurs in humans and some other animals. PKD is characterized by the presence of multiple cysts (hence, "polycystic") typically in both kidneys; however, 17% of cases initially present with observable disease in one kidney, with most cases progressing to bilateral disease in adulthood.

Polycystic kidney disease is one of the most common hereditary diseases in the United States, affecting more than 600,000 people. It is the cause of nearly 10% of all cases of end-stage renal disease and affects men, women, and all races equally.

A common complication of polycystic kidney disease is high blood pressure. Kidney failure is another common problem for people with polycystic kidney disease.

Polycystic kidney disease varies greatly in its severity, and some complications are preventable. Lifestyle changes and medical treatments may help reduce damage to your kidneys from complications, such as high blood pressure.

Symptoms

High blood pressure

Back or side pain

Headache

Increase in the size of your abdomen

Blood in your urine

Frequent urination

Kidney stones

Kidney failure

Urinary tract or kidney infections

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).

Autosomal recessive polycystic kidney disease (ARPKD).

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

High blood pressure.

Loss of kidney function.

Pregnancy complications.

Growth of cysts in the liver.

Development of an aneurysm in the brain.

Heart valve abnormalities.

Colon problems.

Chronic pain.

Tests and diagnosis

For polycystic kidney disease, certain tests can detect the size and number of kidney cysts you have and evaluate the amount of healthy kidney tissue, including:

Ultrasound exam. During an ultrasound, a wand-like device called a transducer is placed on your body. It emits inaudible sound waves that are reflected back to the transducer — like sonar. A computer translates the reflected sound waves into images of your kidneys.

Computerized tomography (CT) scan. As you lie on a movable table, you're guided into a big doughnut-shaped device that projects very thin X-ray beams through your body. Your doctor is able to see cross-sectional images of your kidneys.

Magnetic resonance imaging (MRI) scan. As you lie inside a large cylinder, magnetic fields and radio waves generate cross-sectional views of your kidneys.

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