PKD & Genetics

PKD runs in families.  It is an inherited disorder that is passed from parents to children through genes. 

There are 3 main types of PKD:

  • Autosomal Dominant PKD (also called PKD or ADPKD)
    This form of the disease is passed from parent to child by dominant inheritance. In other words, only one copy of the abnormal gene is needed to cause the disease. Symptoms usually begin between the ages of 30 and 40, but they can begin earlier, even in childhood. ADPKD is the most common form of PKD. In fact, about 90 percent of all PKD cases are ADPKD. 
     
  • Infantile or Autosomal Recessive PKD (also called ARPKD)
    This form of the disease is passed from parent to child by recessive inheritance. Symptoms can begin in the earliest months of life, even in the womb. It tends to be very serious, progresses rapidly, and is often fatal in the first few months of life. This form of ARPKD is extremely rare. It occurs in 1 out of 25,000 people. 
     
  • Acquired Cystic Kidney Disease (also called ACKD)
    ACKD can happen in kidneys with long-term damage and severe scarring, so it is often associated with kidney failure and dialysis. About 90 percent of people on dialysis for 5 years develop ACKD. People with ACKD usually seek help because they notice blood in their urine. This is because the cysts bleed into the urinary system, which discolors urine.

Individuals with PKD who are concerned about passing the disease to their children may want to consult a genetics counselor to help them with family planning. Many university medical centers have this service.

Most of the women with PKD (80 percent) have successful and uneventful pregnancies. However, some women with PKD have an increased risk for serious complications for themselves and their babies. This includes women with PKD who also have:

  • high blood pressure
  • decreased kidney function

Women who have PKD with high blood pressure develop pre-eclampsia (or toxemia) in 40 percent of pregnancies. This is a life-threatening disorder for both the mother and baby, and it can develop suddenly and without warning. Therefore, all women with PKD, particularly those who also have high blood pressure, should be followed closely during their pregnancy by their doctor.