
Kate has a disease called Polycystic Kidney Disease (PKD), which includes both autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). This condition involves clusters of cysts growing in the body, primarily in the kidneys. Over time, these cysts may cause the kidneys to enlarge and eventually stop functioning. PKD is typically inherited, making it an inherited condition.
Cysts are round sacs filled with fluid and are not cancerous. In PKD, the cysts can vary significantly in size, with some growing quite large. The presence of multiple or large cysts can lead to kidney damage.
In addition to the kidneys, polycystic kidney disease can also result in cyst growth in the liver, pancreas, and other areas of the body.
This disease can lead to serious complications, such as high blood pressure and kidney failure. Rapid progressors like Kate often experience kidney failure and require a transplant. There are various levels of disease progression, with levels 1-3 typically allowing for relatively normal lives. However, rapid progressors, such as Kate, who fall into levels 4-5, depend on dialysis and transplants to extend their lives.
Gene changes cause polycystic kidney disease, which includes two primary types: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD). Most often, these conditions run in families, although sometimes a gene change occurs spontaneously in a child, resulting in a situation where neither parent has a copy of the altered gene.
ADPKD is the more common type of ongoing kidney disease that is inherited. Symptoms typically start appearing between the ages of 30 and 40, and only one parent needs to have the condition to pass it on to their children. If one parent has ADPKD, there is a 50% chance for each child to inherit the condition.
In contrast, ARPKD is less common than ADPKD and presents its symptoms often soon after birth, though they may also develop later in childhood or during the teenage years. For ARPKD, both parents must carry the gene changes in order to pass this form of the condition to their children, with a 25% chance for each child to be affected if both parents are carriers.
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