Conditions & Treatments

Polycystic Kidney Disease

Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys.

Polycystic Kidney Disease

Illustration of the anatomy of the kidney
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What is polycystic kidney disease (PKD)?

Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys. PKD cysts can reduce kidney function, leading to kidney failure. People with PKD can also have cysts in the liver and problems in other organs, such as the heart and blood vessels in the brain.

PKD is the fourth leading cause of kidney failure and affects approximately 600,000 people in the U.S., according to the National Kidney Foundation (NKF). The NKF states that about 50% of people with autosomal dominant form of PKD progress to kidney failure by age 60 and about 60% will have kidney failure by age 70.

What are the different types of PKD?

There are two primary inherited forms of PKD and one noninherited form:

Autosomal dominant PKD (inherited)

This is the most common inherited form of polycystic kidney disease, accounting for about 90% of all PKD cases. Autosomal dominant means that if one parent has the disease, there is a 50% chance that the disease will pass to a child, and that both males and females are equally affected. These cases are usually diagnosed in adulthood.

Usually, at least one parent must have the disease for a child to inherit it. In 10% of cases, there may be no family history of PKD. These cases are new mutations in a family. In very few cases, autosomal dominant PKD occurs spontaneously after conception. Parents would not be at increased risk to have additional children with PKD. But individuals with PKD have a 50/50 chance of passing the gene on to their children.

Autosomal dominant PKD is often called the adult polycystic kidney disease. Symptoms usually develop between age 30 and 40 (but they can begin as early as childhood), and may include the following:

  • Abdominal pain

  • Detectable abdominal mass

  • Pale color to skin

  • Bruise easily

  • High blood pressure

  • Kidney stones

  • Aneurysms (bulging of the walls of blood vessels) in the brain

  • Diverticulosis (pouches in the intestines)

  • Urinary tract infections

  • Hematuria (blood in the urine)

  • Liver and pancreatic cysts

  • Abnormal heart valves

Autosomal dominant PKD may occur with other conditions including:

  • Tuberous sclerosis (a genetic syndrome involving seizures, intellectual disability, benign tumors, and skin lesions)

  • Liver disease

  • Severe eye problems 

The symptoms of PKD sometimes look like other conditions or medical problems. Always see your health care provider for a diagnosis.

Diagnosis of autosomal dominant PKD may include the use of imaging techniques to detect cysts on the kidney and other organs and a review of the family history of autosomal dominant PKD. There are three different dominant genes which have been identified that further subdivide autosomal dominant PKD into PKD1, PKD2, and PKD3.

A doctor will establish a treatment plan for autosomal dominant PKD only after careful consideration of the child's symptoms and medical history. Treatment may include:

  • Pain medication

  • Surgery to shrink cysts and relieve pain

  • Treatment for high blood pressure

  • Treatment for urinary tract infections

  • Dialysis

  • Kidney transplantation

Autosomal recessive PKD (inherited)

Autosomal recessive PKD is a rare, inherited form of polycystic kidney disease thought to be caused by a particular genetic flaw that is different from the genetic flaw that causes autosomal dominant PKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their child. Carrier parents have a 25 percent chance with each pregnancy to have a child with this type of PKD. Males and females are equally affected. Autosomal recessive PKD is sometimes detected prenatally (before birth) using a fetal ultrasound.

Symptoms of autosomal recessive PKD can begin before birth. In most cases, the earlier the onset, the more severe the outcome. There are four different types of autosomal recessive PKD, depending on the child's age when symptoms become evident:

  • Perinatal form (present at birth)

  • Neonatal form (presents within the first month of life)

  • Infantile form (presents between age 3 and 6 months)

  • Juvenile form (presents after age 1)

Children born with autosomal recessive PKD may develop kidney failure within a few years and often experience the following:

  • High blood pressure

  • Urinary tract infections

  • Frequent urination

The disease also usually affects the liver, spleen, and pancreas, resulting in low blood cell counts, varicose veins, and hemorrhoids.

The symptoms of autosomal recessive PKD may resemble other conditions or medical problems. Always consult your child's doctor for a diagnosis.

Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. Ultrasound examination of kidneys of relatives may also be helpful.

Your child's doctor will establish a treatment protocol for autosomal recessive PKD only after careful consideration of the child's symptoms and medical profile. Treatment may include:

  • Treatment for high blood pressure

  • Treatment for urinary tract infections

  • Hormonal therapy

  • Dialysis

  • Kidney transplantation

Acquired cystic kidney disease, or ACKD (noninherited)

Acquired cystic kidney disease (ACKD) may develop in association with long-term kidney problems, especially in people who have kidney failure and who have been on dialysis for a long time. Therefore, it tends to occur later in life and is an acquired, not inherited, form of PKD. Often there are cysts in other organs, such as the liver and the pancreas.

Treatment Programs

Massachusetts General Hospital understands that a variety of factors influence patients' health care decisions. That's just one reason why we're dedicated to ensuring patients understand their diagnosis and treatment options. Because a single option might not serve all patients, we offer a wide range of coordinated treatments and related services across the hospital. Patients should consult with their primary care doctor or other qualified health care provider for medical advice and diagnosis information.

Select a treatment program for more information:


  • Adult Medicine Imaging
    The Adult Medicine Imaging Program at Massachusetts General Hospital Imaging offers a wide range of diagnostic exams and minimally invasive, image-guided treatments, all provided using leading-edge equipment and interpreted by specialty-trained radiologists.
  • Pediatric Imaging
    The Pediatric Imaging Program at Massachusetts General Hospital Imaging specializes in ensuring the safety and comfort of child patients while providing the latest technology and the expertise of specialized pediatric radiologists.
MassGeneral Hospital for Children

  • Pediatric Hepatobiliary and Pancreatic Program
    The Pediatric Hepatobiliary and Pancreatic Program at MassGeneral Hospital for Children diagnoses and treats infants, children and adolescents with diverse hepatic, biliary and pancreatic disorders.
  • Pediatric Transplant Surgery
    The Pediatric Transplant Program at MassGeneral Hospital for Children is a major referral center for organ transplants for children.
Transplant Center

  • Kidney/Pancreas/Islet Transplant Programs
    The Kidney/Pancreas/Islet Transplant Programs at Massachusetts General Hospital provide new and unique treatment options for patients with end-stage renal disease (kidney failure) and/or type 1 diabetes.
Nephrology Division

  • Center for Renal Education
    The Center for Renal Education provides education about Chronic Kidney Disease and its management and individualized plans of care that include nutritional counseling, blood pressure management, medication review and supportive services.
  • Resistant Hypertension Program
    The Resistant Hypertension Program specializes in the evaluation, diagnosis and management of patients with resistant or difficult to treat hypertension.
  • Chronic Ambulatory Peritoneal Dialysis (CAPD) Program
    The Peritoneal Dialysis Unit provides training and long term management for the patient who selects peritoneal dialysis as home therapy. Staffed by experienced peritoneal dialysis nurses, manual and automated home peritoneal dialysis is available.
  • Renal Associates Clinic
    Renal Associates provides services in general nephrology including diabetes, water and electrolyte disorders, kidney disease in pregnancy, urinary tract infections, and primary and secondary diseases of the kidney.
  • Polycystic Kidney Disease (PKD) Clinic
    The Polycystic Kidney Disease (PKD) Clinic at Massachusetts General Hospital specializes in the diagnosis and management of cystic kidney diseases.

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