What is PKD?
Polycystic Kidney Disease (PKD) is a genetic disease that causes the kidneys to grow multiple cysts. As these cysts grow larger, blood flow becomes strained and can lead to tissue damage and scarring. Eventually this can lead to kidney failure. Since PKD affects roughly 1 in every 800 people and accounts for 5-10% of dialysis patients, it is important to understand how the disease may affect you too.
How do you get PKD?
PKD is usually inherited from one or more of your parents. The cysts form because genes in your DNA have mutated and caused cells to grow/multiply rapidly when they shouldn’t.
The Two Types of PKD
It’s important to understand the difference!
PKD 1: Autosomal Dominant
- Most common, usually comes from one parent
- Each child of an affected parent has a 50% chance of getting the disease
- Does not skip generations: If child of an affected parent doesn’t get it, grandchildren won’t either
PKD 2: Autosomal Recessive
- Much less common (1 in 20,000 people)
- Mutated gene has to be present in both parents, then child has 25% chance of getting it
- Usually diagnosed in infancy, sometimes up to adolescence in mild cases
Should I care which type of PKD I have?
Absolutely! PKD 1 is aggressive and more common (85% of families). The average age for needing dialysis here is 55 years. On the other hand, PKD 2 is milder, often presents later in life and may not be diagnosed at all. The average age for needing dialysis is 69 years.
How does PKD progress with age?
The disease can only be found through a kidney ultrasound, so you should be tested if you have family history. The disease is 99% specific and “at risk” individuals with PKD usually follow these patterns:
Average PKD Timeline
If an “at risk” individual has negative ultrasounds at 20 years and 30 years of age, the likelihood of disease inheritance is below 10% and 5% respectively. There are stricter criteria for those with no family history of PKD.
PKD Signs & Symptoms
- High blood pressure
- Flank & abdominal pain due to kidney swelling
- Blood in urine (cysts can fill with blood & burst)
- Localized pain from infection (requires antibiotic therapy)
- Kidney stones
Also keep an eye out for…
Liver cysts – Very common! The liver may become enlarged and lead to leg swelling and shortness of breath.
Brain aneurysm – An aneurysm is a swollen blood vessel. The bigger they are, the more likely they’ll burst open and collapse—yikes! To avoid this, keep an eye out for headaches, nausea and vomiting.
Helpful Hint: PKD tends to cluster in families!
Make sure to get screened if a family member ever had heart valve disease, and it’s a good idea to see a cardiologist to check your heart valves.
