Polycystic kidney disease

Polycystic kidney disease is a disorder in which clusters of cysts develop primarily within your kidneys. Cysts are noncancerous (benign) round sacs of water-like fluid.

Polycystic kidney disease isn't limited to only your kidneys, although the kidneys usually are the most severely affected organs. The disease can cause cysts to develop in your liver, pancreas, membranes that surround your brain and central nervous system, and seminal vesicles.

The greatest risk for people with polycystic kidney disease is developing high blood pressure. Kidney failure also is common with polycystic kidney disease.

Polycystic kidney disease affects more than 12 million people worldwide. The disease varies greatly in its severity, and some complications are preventable. Regular checkups can lead to treatments to reduce damage to your kidneys from complications, such as high blood pressure.

Signs and symptoms

• High blood pressure

• Back or side pain related to enlarged kidneys

• Abdominal pain

• Increase in the size of your abdomen

• Blood in your urine

• Kidney stones

• Kidney failure

• Kidney infections

• Headache

Cysts are noncancerous (benign), round sacs that contain water-like fluid. They vary in size from tiny sacs to sacs large enough to hold several quarts of fluid. Having one or more benign kidney cysts is common, especially in people older than 50. A benign, simple kidney cyst doesn't require treatment. And having one or more kidney cysts doesn't mean you have polycystic kidney disease.

Abnormal genes cause polycystic kidney disease, and the genetic defects mean the disease runs in families. The disease has two types, caused by different genetic flaws:

• Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of this form often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but in a small number of cases children do 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 form is far less common than ADPKD, occurring only in one in 20,000 births in the United States. 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 the genes for this disorder, each child has a 25 percent chance of getting the disease.

Screening and diagnosis:Several diagnostic methods are available to detect the size and number of cysts as well as to evaluate the amount of healthy kidney tissue.

1. Ultrasound examination

2. Computerized tomography (CT) scan.

3. Magnetic resonance imaging (MRI) scan.

4. Genetic testing.

Treatments include

• medicine and surgery to reduce pain

• antibiotics to resolve infections

• dialysis to replace functions of failed kidneys

• kidney transplantation

Category: Nephrology Notes