Congenital Cystic Kidney Disease

Congenital cystic kidney disease is a group of birth defects affecting the kidneys and urinary system, where fluid-filled sacs develop in place of normal kidney tissue, potentially blocking the flow of urine and leading to serious complications.

Congenital Renal Cystic Dysplasia, Congenital Cystic Dysplasia of the Kidneys

Table of contents

• What Is Congenital Cystic Kidney Disease?
• Which Parts of the Body Are Affected?
• How Is It Discovered?
• What Problems Can It Cause?
• What Can Be Expected?
• How Is It Treated?

What Is Congenital Cystic Kidney Disease?

Congenital cystic kidney disease is a broad category of birth defects involving the kidneys and the urinary tract (the system that carries urine out of the body). In this condition, fluid-filled sacs called cysts replace normal kidney tissue, preventing the affected kidney from working properly.^[1]

The disease can affect one or both kidneys. When only one kidney is affected, the unaffected kidney usually grows larger to compensate for the nonworking kidney and does the work of both kidneys.^[1] The nonworking kidney often shrinks and disappears over time.

Congenital cystic kidney disease may occur as the only birth defect, or it may be part of a larger group of health problems called a syndrome, occurring together with other abnormalities in the body.^[1]

Which Parts of the Body Are Affected?

• Kidneys
• Ureter
• Bladder
• Urethra
• Testes
• Abdominal wall muscles

While the kidneys are the main organs affected, abnormalities may also affect other parts of the urinary tract. These include the ureter (the tube that carries urine from the kidney to the bladder), the bladder (where urine is stored), or rarely the urethra (the tube through which urine leaves the body).^[1] In some cases, the testes or abdominal wall muscles may also be affected.

How Is It Discovered?

Congenital cystic kidney disease is commonly discovered when routine ultrasound is done before birth or during early childhood for a reason unrelated to the kidneys.^[1] An ultrasound uses sound waves to create pictures of the inside of the body, allowing doctors to see the kidneys and identify any cysts that have formed.

What Problems Can It Cause?

If enough kidney tissue is damaged, chronic kidney disease can result. Chronic kidney disease means the kidneys are not working as well as they should over a long period of time.^[1] This sometimes causes symptoms and often leads to slowed growth in children.

When the flow of urine becomes blocked, it can cause additional problems. The disease may also progress over time, potentially leading to more serious complications.^[1]

What Can Be Expected?

The outlook for babies with congenital cystic kidney disease varies greatly. Babies born with the condition affecting only one kidney can grow normally and may have few, if any, health problems.^[15] However, babies born with the condition affecting both kidneys may face more serious challenges.

The prognosis is highly unpredictable because it may be difficult for doctors to tell how much kidney tissue is unaffected and functions normally.^[1] Each case is different, and doctors must evaluate the amount of healthy kidney tissue remaining to understand what might happen in the future.

How Is It Treated?

Treatment for congenital cystic kidney disease focuses on managing complications and supporting kidney function. If there are associated defects of the urinary tract, surgical correction may be needed.^[1] Surgery can help fix blockages or other problems that prevent urine from flowing properly.

If chronic kidney disease progresses to end-stage kidney disease (also called ESKD or end-stage kidney failure), more intensive treatment becomes necessary. End-stage kidney disease means the kidneys have stopped working almost completely and can no longer keep the body healthy on their own.^[1]

At this stage, patients may need dialysis or kidney transplantation.^[1] Dialysis is a treatment that uses a machine to filter waste products from the blood when the kidneys can no longer do this job. A kidney transplant involves placing a healthy kidney from a donor into the patient’s body to replace the diseased kidneys.

A health care professional may need to evaluate the unaffected kidney to make sure it is working properly.^[15] Regular monitoring helps doctors catch any problems early and provide the best possible care.