Pediatric Polycystic Kidney Disease (PKD)

What are the different types of Pediatric Polycystic Kidney Disease (PKD)?

There are two main types of PKD:

Autosomal dominant PKD

This type is inherited from at least one parent and is the most common form of the disease. In most cases, autosomal dominant PKD is not diagnosed until adulthood, however, children can be diagnosed early in life or even before birth

Autosomal recessive PKD

This type is a much more rare and severe form that is caused by a genetic defect inherited from both parents. The condition is usually detected during an ultrasound before birth and some infants do not survive the first month of life.

What are the signs and symptoms of Pediatric Polycystic Kidney Disease (PKD)?

Symptoms of autosomal dominant PKD

Symptoms of autosomal dominant PKD often do not develop until a person is an adult, but can begin in childhood. These symptoms include:

• Abdominal mass

• Abdominal pain

• Abnormal heart valves

• Brain aneurysms

• Cysts in the liver or pancreas

• Diverticulitis (pouches in the intestines)

• Frequent urinary tract infections

• High blood pressure

• Kidney stones

• Pale skin

Symptoms of autosomal recessive PKD

Symptoms of autosomal recessive PKD are usually detected before birth during an ultrasound. Infants born with autosomal recessive PKD may have the following symptoms:

• Frequent urination

• Frequent urinary tract infections (UTI)

• Hemorrhoids

• High blood pressure

• Kidney failure 

• Low blood cell counts

• Varicose veins (enlarged and twisted veins)

What are the causes of Pediatric Polycystic Kidney Disease (PKD)?

Autosomal dominant PKD is caused by a gene defect that is inherited from one parent. Autosomal recessive PKD is caused by a gene defect that must be inherited from both parents.