Written by:Fact check:

Overview

What Is Polycystic Kidney Disease?

Polycystic kidney disease (PKD) is an inherited condition in which multiple fluid-filled cysts develop in the kidneys. The cysts can enlarge the kidneys and, over time, may reduce their ability to filter waste from the blood. This kidney cysts disease can affect children or adults, depending on the form. Some people have few symptoms for many years, while others develop kidney problems earlier.

Symptoms

Polycystic Kidney Disease Symptoms

  • High blood pressure (hypertension) can develop as cysts affect the kidneys.
  • Pain in the back or side may occur as cysts enlarge or become irritated.
  • Blood in the urine (hematuria) can be visible or detected during urine testing.
  • Frequent urination may occur when cysts affect kidney function or bladder-related symptoms.
  • Urinary tract infections may occur repeatedly in some people with PKD.
  • Kidney stones can cause sudden, severe pain and urinary symptoms.
  • Abdominal fullness or enlargement may result from enlarged kidneys or other cysts.

Important

Symptoms can be delayed

PKD may cause no noticeable symptoms for years. Signs of polycystic kidney disease can vary with age, the number and size of cysts, and kidney function, so new or persistent symptoms should be assessed by a healthcare professional.

Causes

What Causes Polycystic Kidney Disease?

COMMON FORM

Autosomal dominant PKD is usually caused by a disease-causing variant in the PKD1 or PKD2 gene. It often leads to cyst growth and kidney enlargement during adulthood.

RARER FORM

Autosomal recessive PKD is usually caused by variants in the PKHD1 gene. It often affects infants or children and may also affect the liver.

A parent with autosomal dominant polycystic kidney disease can pass the condition to a child. Autosomal recessive PKD occurs when a child inherits disease-causing gene variants from both parents, who may have no symptoms. Some cases result from a new gene change or an undiagnosed family history, so not everyone has a known affected relative.

Risk Factors

Risk Factors for Polycystic Kidney Disease

  • Having a parent or close relative with PKD increases the likelihood of inherited disease.
  • Having a known disease-causing variant in the PKD1, PKD2, or PKHD1 gene is a genetic risk factor.
  • Having parents who carry gene changes associated with autosomal recessive PKD can increase a child’s risk.
  • Uncontrolled high blood pressure does not cause inherited PKD but can worsen kidney damage and progression.
  • Smoking does not cause PKD but can harm blood vessels and kidney health.
  • Excess dietary sodium does not cause PKD but can make blood pressure harder to control.
  • Obesity does not cause PKD but may add stress to the kidneys and increase related health risks.
  • Poorly controlled diabetes, when present, does not cause PKD but can contribute to kidney damage.

Complications

Polycystic Kidney Disease Complications

  • Chronic kidney disease can develop as cysts damage healthy kidney tissue over time.
  • Kidney failure may occur when the kidneys can no longer adequately filter waste and extra fluid.
  • High blood pressure can both result from PKD and contribute to further kidney damage.
  • Recurrent urinary tract or cyst infections may cause pain, fever, or changes in urination.
  • Kidney stones can block urine flow and cause severe flank or abdominal pain.
  • Blood in the urine may occur when cysts bleed or the urinary tract is affected.
  • Pain may result from enlarged kidneys, growing cysts, bleeding, infection, or pressure on nearby tissues.

Complications Outside the Kidneys

  • Liver cysts can occur, although they do not affect everyone with PKD and may cause few symptoms.
  • Abnormal heart valves may occur in some people and may be assessed when symptoms or examination findings suggest a problem.
  • Brain aneurysms occur in selected people with PKD, so specialist assessment may be considered for certain individuals or family histories.

Diagnosis

How Polycystic Kidney Disease Is Diagnosed

  • Medical and family history helps the clinician identify inherited patterns and related symptoms.
  • Blood pressure measurement checks for hypertension, a common feature of PKD.
  • Kidney function blood tests measure how well the kidneys filter waste.
  • Urine testing looks for blood, protein, infection, or other signs of kidney problems.
  • Imaging such as ultrasound, CT, or MRI can identify and measure kidney cysts.

Genetic testing may help when imaging is unclear, when a living kidney donor is being evaluated, when someone has a strong family history, or when the specific PKD type could affect family planning. The choice of test is guided by a clinician or genetic counselor. Testing is not always needed to diagnose adult polycystic kidney disease, particularly when imaging and family history provide a clear answer.

Treatment & Management

Polycystic Kidney Disease Treatment and Management

  • Regular monitoring of kidney function and blood pressure helps identify changes early.
  • Blood pressure medicines such as ACE inhibitors or ARBs may be prescribed when appropriate.
  • A lower-sodium eating pattern can support blood pressure control and kidney health.
  • Fluid intake should follow the guidance of a healthcare professional because needs vary.
  • Regular physical activity can support cardiovascular health and overall well-being.
  • Avoiding tobacco helps protect blood vessels and kidney function.
  • Medicines that can harm the kidneys should be avoided unless a clinician approves them.

Disease-Modifying Treatment and Symptom Care

Tolvaptan may be considered for selected adults with rapidly progressing autosomal dominant PKD. A clinician must monitor its potential benefits and risks, including hydration needs and liver safety. Pain, infections, and kidney stones are treated according to their cause, severity, and the person’s overall health.

Outlook and Prognosis

Outlook and Prognosis for Polycystic Kidney Disease

PKD is chronic and currently has no universal cure, but its course varies widely. Some people retain useful kidney function for many years, while others develop advanced chronic kidney disease or kidney failure. Regular care can help manage complications and protect kidney function for as long as possible.

  • PKD type and the specific gene variant can influence how quickly the disease progresses.
  • Age at diagnosis may provide information about the likely timing of symptoms and complications.
  • Cyst burden and kidney size can be associated with the pace of kidney damage.
  • Blood pressure control is an important factor in protecting kidney function over time.
  • Kidney function over time helps clinicians assess progression and adjust care.
  • Access to specialist monitoring and treatment can support early management of complications.

When Should You See a Doctor

When Should You See a Doctor?

Make an appointment

Discuss persistent or new symptoms

Arrange medical evaluation for persistent side or back pain, blood in the urine, repeated urinary tract infections, kidney stone symptoms, new or difficult-to-control high blood pressure, swelling, or changes in urination.

Seek urgent care

Get help for severe warning signs

Seek urgent medical care for a severe sudden headache, fainting, new weakness, severe abdominal or flank pain, inability to urinate, heavy blood in the urine, high fever with urinary symptoms, chest pain, or severe shortness of breath.

People with a parent, sibling, or child diagnosed with PKD should discuss screening, imaging, genetic counseling, and family planning with a healthcare professional. A clinician can explain which evaluation is appropriate instead of arranging testing independently.

Branches

1 topic

Tests & Procedure

1 topic

Symptoms

1 topic