Polycystic kidney disease (PKD) in children

What is polycystic kidney disease (PKD) in children?

Polycystic kidney disease (PKD) is a rare disease in which fluid-filled cysts grow in the kidneys.

These cysts cause problems that reduce the function of the kidneys and can lead to kidney failure.

What are the different types of polycystic kidney disease (PKD) in children?

There are two main types of PKD:

1. Autosomal dominant PKD 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

2. Autosomal recessive PKD 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 polycystic kidney disease (PKD) in children?

Autosomal dominant PKD 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

Autosomal dominant PKD symptoms often do not develop until a person is an adult, but can begin in childhood.

Autosomal recessive PKD symptions in infants 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)

Autosomal recessive PKD symptoms of are usually detected before birth during an ultrasound.

What are the causes of polycystic kidney disease (PKD) in children?

• 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.