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 chance that the disease will pass to a child, and that both males and females are equally affected.
Usually, at least one parent must have the disease for a child to inherit it. In 10 percent of cases, there may be no family history of PKD. These cases are new mutations in a family. In very few cases, autosomal dominant PKD occurs spontaneously after conception. Parents would not be at increased risk to have additional children with PKD. But individuals with PKD have a 50/50 chance of passing the gene on to their children.
Autosomal dominant PKD is often called the adult polycystic kidney disease. Symptoms usually develop between the ages of 30 and 40 (but they can begin as early as childhood), and may include the following:
detectable abdominal mass
pale color to skin
high blood pressure
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, mental retardation, benign tumors, and skin lesions
severe eye problems (cataracts or blindness)
The symptoms of autosomal dominant PKD may resemble other conditions or medical problems. Always consult your child’s physician for a diagnosis.
Diagnosis of autosomal dominant PKD may include the use of imaging techniques to detect cysts on the kidney and other organs and a review of the family history of autosomal dominant PKD. There are three different dominant genes which have been identified that further subdivide autosomal dominant PKD into PKD1, PKD2, and PKD3.
A physician will establish a treatment protocol for autosomal dominant PKD only after careful consideration of the child’s symptoms and medical history. Treatment may include:
surgery to shrink cysts and relieve pain
treatment for high blood pressure
treatment for urinary tract infections