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Polycystic Kidney Disease

Polycystic kidney disease (PKD) is a genetic disorder characterized by growth of multiple fluid-filled cysts in the kidneys. PKD cysts cause the kidneys to significantly enlarge, which results in reduced kidney function and leads to kidney failure.

Symptoms

• Blood in the urine
• Frequent urination/urinary tract infection
• Kidney stones
• High blood pressure
• Pain in the lower back and abdominal area
• End stage renal disease (ESRD)
• Enlarged liver and spleen
• Low amniotic fluid volume during pregnancy

Risk Factors

• Family history
• Genetic Mutations

Genetic Test

The following genetic tests may be appropriate based on your personal and/or family history:

• Autosomal dominant PKD
  
  • PKD1
  • PKD2
• Autosomal recessive PKD
  
  • PKHD1
  • Linkage analysis

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule appointment online
• Or call 1-800-975-4819
• Send email

Learn More

NIH Genetics Home Reference Page

National Kidney and Urologic Diseases Information Clearinghouse

Support Groups

PKD Foundation

National Kidney Foundation