Kidney Disease

About Polycystic Kidney Disease

Polycystic Kidney Disease

Polycystic kidney disease (PKD) is a genetic disease that causes a steady growth of cysts in the kidneys. As cysts grow, they damage surrounding kidney tissue and cause a loss of kidney function. This can lead to kidney failure and the need for dialysis or a kidney transplant.

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There are two types of PKD: autosomal recessive (ARPKD) and autosomal dominant (ADPKD). 

ARPKD is a rare form of PKD, affecting 1 in 20,000 births. It is caused by two abnormal copies of the PKHD1 gene. ARPKD is detectable in utero as cyst growth leads to enlarged kidneys very early on. This results in serious complications and in many cases may cause death soon after birth. Other complications with ARPKD can include liver problems and difficulty breathing. The prognosis for ARPKD has improved greatly in recent years, but approximately 1/3 of children with ARPKD will need dialysis or a kidney transplant by age 10.

ADPKD is the more common form of PKD, affecting more than 12.5 million people worldwide. It is caused by one abnormal copy of either the PKD1 or PKD2 gene. Small cysts are present at birth and continue to grow at a steady pace. Healthy kidney tissue around the growing cysts can compensate for the loss of function for many years. Because of this compensation, people may not notice any symptoms until adulthood, often when kidney function starts to noticeably decline. Other symptoms that develop such as pain, hypertension, bladder or kidney infections, enlarged abdomen, and blood in the urine can affect quality of life. More than half of people with ADPKD will need dialysis or a kidney transplant by age 60.