Autosomal dominant PKD (inherited)

Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys. These cysts can reduce the kidney's ability to function, leading to kidney failure.

There are three major types of PKD:

• autosomal dominant PKD (inherited)
• autosomal recessive PKD (inherited)
• acquired cystic kidney disease, or ACKD (non-inherited)

Autosomal dominant PKD (inherited)

This is the most common inherited form of polycystic kidney disease, accounting for about 90 percent of all PKD cases.

"Autosomal dominant" means that if one parent has the disease, there is a 50 percent change that the disease will pass to your child, and that both girls and boys are equally affected.

In 25 percent of cases, there is no family history of PKD. You would not be at increased risk of having additional children with PKD, but your child with PKD would have a 50/50 chance to pass the gene on to her children.

Autosomal dominant PKD is often called the adult polycystic kidney disease.

What are the symptoms of autosomal dominant PKD?

• Symptoms usually develop between the ages of 30 and 40 (but they can begin as early as childhood), and may include:
• abdominal pain
• detectable abdominal mass
• pale color to skin
• bruise easily
• high blood pressure
• kidney stones
• aneurysms (bulging of the walls of blood vessels) in the brain
• diverticulosis (pouches in the intestines)
• urinary tract infections
• hematuria (blood in the urine)
• liver and pancreatic cysts
• abnormal heart valves

Autosomal dominant PKD may occur with other conditions including:

• Tuberous sclerosis - a genetic syndrome involving seizures, intellectual disabilities, benign tumors, and skin lesions
• Liver disease
• Severe eye problems (cataracts or blindness)