Pediatric Polycystic Kidney Disease (PKD)
Polycystic kidney disease (PKD) is a rare, genetic disease that causes damage to the kidneys and can lead to kidney failure.
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.
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.
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.
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
- Bruising easily
- Cysts in the liver or pancreas
- Diverticulitis (pouches in the intestines)
- Frequent urinary tract infections (UTI)
- 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: