What is Polycystic Kidney Disease?
Polycystic kidney disease (PKD) is a condition that affects the kidneys. The disease is caused by a mutation, which leads to uncontrollable growth of fluid-filled sacs called "cysts" in the kidneys. It is the most common inherited kidney disease.
The cysts cause the kidneys to get bigger than normal. The cysts can also keep the kidneys from working normally. This can lead to problems, such as high blood pressure, kidney infections, and kidney failure. Kidney failure is when the kidneys stop working completely. Besides kidney problems, PKD can cause problems in other parts of the body.
The condition has 2 major forms:
- Autosomal dominant polycystic kidney disease (ADPKD), which affects 50% of offspring of the affected parent. The disease usually presents in the early 20s with observation of numerous cysts in the kidney in ultrasound. ADPKD leads to End Stage Kidney Disease (ESKD), requiring dialysis commonly in the fourth and fifth decade of life. It is worth noting that although ADPKD is known as a kidney disease, it is in fact a multisystem disease that affects the liver (most common extra-renal organ), brain and heart.
- Autosomal Recessive Polycystic Kidney Disease is another form of the disease, which is much less prevalent, and it starts in early childhood and leads to ESKD very early in life.
What is the Incidence & Prevalence of PKD?
In the USA, ADPKD ranks as the third leading cause of patients requiring dialysis. With over 600,000 individuals affected by ADPKD in the country, around 10,000 patients initiate dialysis annually due to the ailment. Prevalence estimated to be between 1:400 and 1:1000 live births.
ARPKD is far less common and emerges during early childhood, leading to early-onset kidney failure.