In this Article

• What is Polycystic Kidney Disease?
• What is autosomal dominant PKD?
• What are the symptoms of autosomal dominant PKD?
• How is autosomal dominant PKD diagnosed?
• How is autosomal dominant PKD treated?
• What is autosomal recessive PKD?
• What are the symptoms of autosomal recessive PKD?
• How is autosomal recessive PKD diagnosed?
• How is autosomal recessive PKD treated?
• What is a genetic disease?
• Hope through research
• Polycystic Kidney Disease At A Glance
• Polycystic Kidney Disease Glossary
• Polycystic Kidney Disease Index
• Find a local Nephrologist in your town

How is autosomal recessive PKD diagnosed?

Ultrasound imaging of the fetus or newborn reveals enlarged kidneys with an abnormal appearance, but large cysts such as those in autosomal dominant PKD are rarely seen. Because autosomal recessive PKD tends to scar the liver, ultrasound imaging of the liver also aids in diagnosis.

How is autosomal recessive PKD treated?

Medicines can control high blood pressure in autosomal recessive PKD, and antibiotics can control urinary tract infections. Eating increased amounts of nutritious food improves growth in children with autosomal recessive PKD. In some cases, growth hormones are used. In response to kidney failure, autosomal recessive PKD patients must receive dialysis or transplantation. If serious liver disease develops, some people can undergo combined liver and kidney transplantation.

What are genetic diseases?

Genes are segments of DNA, the long molecules that reside in each of a person's cells. The genes, through complex processes, build proteins for growth and maintenance of the body. At conception, DNA-or genes-from both parents are passed to the child.

A genetic disease occurs when one or both parents pass abnormal genes to a child at conception. If receiving an abnormal gene from just one parent is enough to produce a disease in the child, the disease is said to have dominant inheritance. If receiving abnormal genes from both parents is needed to produce disease in the child, the disease is said to be recessive. A genetic disease can also occur through a spontaneous mutation.

The chance of acquiring a dominant disease is higher than the chance of acquiring a recessive disease. A child who receives only one gene copy for a recessive disease at conception will not develop the genetic disease-such as autosomal recessive PKD-but could pass the gene to the following generation.