Polycystic Kidney Disease Symptoms & Causes

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

There are three major types of PKD:

  • autosomal dominant PKD (inherited)
  • autosomal recessive PKD (inherited)
  • acquired cystic kidney disease, or ACKD (non-inherited)

Autosomal dominant PKD (inherited)

  • This is the most common inherited form of polycystic kidney disease, accounting for about 90 percent of all PKD cases.

  • "Autosomal dominant" means that if one parent has the disease, there is a 50 percent change that the disease will pass to your child, and that both girls and boys are equally affected.

  • In 25 percent of cases, there is no family history of PKD. You would not be at increased risk of having additional children with PKD, but your child with PKD would have a 50/50 chance to pass the gene on to her children.

  • Autosomal dominant PKD is often called the adult polycystic kidney disease.

What are the symptoms of autosomal dominant PKD?

Symptoms usually develop between the ages of 30 and 40 (but they can begin as early as childhood), and may include:

  • 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:

Autosomal recessive PKD (inherited)

  • Autosomal recessive PKD is a rare, inherited form thought to be caused by a different genetic flaw that the one responsible for 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.
  • If you are a carrier of this gene, there is a 25 percent chance, with each pregnancy, that your child will have this type of PKD.
  • Males and females are equally affected.
  • Autosomal recessive PKD is sometimes detected prenatally (before birth) using a fetal ultrasound.

What are the symptoms of autosomal recessive PKD?

Symptoms of autosomal recessive PKD can begin before birth. In most cases, the earlier the onset, the more severe the outcome. There are four types of autosomal recessive PKD, depending upon how old your child is when she begins experiencing symptoms:

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

Symptoms of autosomal recessive PKD your child may experience include:

  • urinary tract infections
  • frequent urination
  • low blood cell counts
  • delayed development
  • small stature
  • protruding abdomen
  • respiratory problems due to extreme kidney enlargement
  • back pain
  • pain in sides
  • kidney cysts
  • high blood pressure

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.

Acquired cystic kidney disease or ACKD (non-inherited)

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