Polycystic kidney disease (PKD) is a rare type of chronic kidney disease. It’s a genetic condition in which numerous fluid-filled sacs grow inside the kidneys, damaging the delicate filtering structures, and pushing on the kidney walls, forcing them outward to accommodate the growths. 

Damage from PKD is progressive, and the kidneys gradually lose their ability to filter wastes, toxins, and excess fluids from the blood. While PKD primarily affects the kidneys, cysts can also grow in the liver and other organs. Here are some basics you should know about PKD causes, symptoms, and treatments.*

Causes of PKD

There are two inherited forms of PKD–autosomal dominant (ADPKD), which is the more common form, and autosomal recessive (ARPKD). In the dominant form, if one parent carries the gene, the child has  a 50% chance of inheriting the disease. In the recessive form, both parents must carry the gene. If they do, there’s a 25% chance of each child developing the disease. 

Symptoms of PKD

In someone with ADPKD, symptoms will generally manifest between ages 30 and 40, while in ARPKD they can start during childhood or even before birth. For ADPKD, there are few symptoms in the early stages of the disease. When symptoms do appear, they can include:

• Back and side pain
• Hypertension
• Urinary tract infections (UTIs)
• Kidney stones

There can also be more severe symptoms such as:

• Aneurysms in the brain
• Heart valve abnormalities
• Hematuria (blood in the urine)
• Liver and pancreatic cysts

People with ARPKD may additionally experience:

• Liver scarring
• Low blood cell counts
• Stunted growth
• Varicose veins

Diagnosing and Treating PKD

PKD is typically diagnosed using ultrasound, CT scans, or MRI imaging of the kidneys and liver. 

While there is no cure for PKD, your doctor can treat and manage symptoms, and help delay disease progression. 

High blood pressure and UTIs can be controlled with medication. Surgery can help with certain structural abnormalities. Growth hormones can be given to children to facilitate normal physical development.

Once kidney failure occurs, dialysis or transplantation is needed to compensate for the failed kidneys and extend life. Children with PKD can develop kidney failure before adulthood. Sadly, some newborns with severe disease die of respiratory failure just hours after birth. In children who develop symptoms in later childhood or early adulthood, liver scarring is common.

Speak with your doctor if you, your child, or another family member has PKD or may be at risk for developing it.

*Johns Hopkins Medicine. (2023). Polycystic Kidney Disease. https://www.hopkinsmedicine.org/health/conditions-and-diseases/polycystic-kidney-disease