Polycystic Kidney Disease 

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:

• abdominal pain
  
  
• detectable abdominal mass
  
  
• pale color to skin
  
  
• bruise easily
  
  
• high blood pressure
  
  
• kidney stones
  
  
• 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.
  
  
• liver disease
  
  
• 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:

• pain medication
• surgery to shrink cysts and relieve pain
• treatment for high blood pressure
• treatment for urinary tract infections
• dialysis
• kidney transplantation

Autosomal recessive PKD is a rare, inherited form of polycystic kidney disease thought to be caused by a particular genetic flaw that is different from the genetic flaw that causes autosomal dominant PKD. Parents who do not have the disease can have a child with the disease, if both parents carry the abnormal gene and both pass the gene to their child. Carrier parents have a 25 percent chance, with each pregnancy, to have a child with this type of PKD. Males and females are equally affected. Autosomal recessive PKD is sometimes detected prenatally (before birth) using a fetal ultrasound.

Symptoms of autosomal recessive PKD can begin before birth. In most cases, the earlier the onset, the more severe the outcome. There are four different types of autosomal recessive PKD, depending upon the child's age when symptoms become evident:

• perinatal form - present at birth
  
  
• neonatal form - presents within the first month of life
  
  
• infantile form - presents between 3 and 6 months of age
  
  
• juvenile form - presents after 1 year of age

Children born with autosomal recessive PKD may develop kidney failure within a few years and often experience the following:

• high blood pressure
• urinary tract infections
• frequent urination

The disease also usually affects the liver, spleen, and pancreas, resulting in low blood cell counts, varicose veins, and hemorrhoids.

The symptoms of autosomal recessive PKD may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.

Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. Ultrasound examination of kidneys of relatives may also be helpful.

Your child's physician will establish a treatment protocol for autosomal recessive PKD only after careful consideration of the child's symptoms and medical profile. Treatment may include:

• treatment for high blood pressure
• treatment for urinary tract infections
• hormonal therapy
• dialysis
• kidney transplantation

Acquired cystic kidney disease (ACKD) may develop in association with long-term kidney problems, especially in persons who have kidney failure and who have been on dialysis for a long time. Therefore, it tends to occur later in life, and is an acquired, not inherited, form of PKD.