Autosomal dominant PKD (ADPKD) is the most common form of PKD. It accounts for about 90% of all PKD cases. Autosomal dominant means that if one parent has the disease there is a 50% chance that the disease will pass to a child. Both males and females are equally affected.
ADPKD used to be called adult polycystic kidney disease. It is often diagnosed in adulthood. Usually, at least one parent must have the disease for a child to inherit it. In 10% of cases, there may be no family history of PKD. These cases are new mutations in a family. In very few cases, this type of PKD happens suddenly after conception. Parents would not be at increased risk to have more children with PKD. But people with PKD have a 50/50 chance of passing the gene on to their children.
Symptoms often start between age 30 and 40. But they can begin in childhood. They may include:
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Belly pain
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Detectable belly mass
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Pale color to skin
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Easy bruising
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High blood pressure
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Kidney stones
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Aneurysms (bulging of the walls of blood vessels) in the brain
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Diverticulosis (pouches in the intestines)
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Urinary tract infections
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Hematuria (blood in the urine)
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Liver and pancreatic cysts
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Abnormal heart valves
ADPKD may happen with other conditions, such as:
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Tuberous sclerosis (a genetic syndrome involving seizures, intellectual disability, benign tumors, and skin lesions)
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Liver disease
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Severe eye problems
The symptoms of ADPKD sometimes look like other health problems. Always see your healthcare provider for a diagnosis.
Diagnosis of ADPKD may include the use of imaging tests to detect cysts on the kidney and other organs and a review of the family history. There are 3 different dominant genes that have been identified. They further subdivide this type into PKD1, PKD2, and PKD3.
A healthcare provider will create a treatment plan after careful consideration of symptoms and medical history. Treatment may include:
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Pain medicine
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Surgery to shrink cysts and ease pain
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Treatment for high blood pressure
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Treatment for urinary tract infections
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Dialysis
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Kidney transplant
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