In this Article

• What is Polycystic Kidney Disease?
• What is autosomal dominant PKD?
• What are the symptoms of autosomal dominant PKD?
• How is autosomal dominant PKD diagnosed?
• How is autosomal dominant PKD treated?
• What is autosomal recessive PKD?
• What are the symptoms of autosomal recessive PKD?
• How is autosomal recessive PKD diagnosed?
• How is autosomal recessive PKD treated?
• What is a genetic disease?
• Hope through research
• Polycystic Kidney Disease At A Glance
• Polycystic Kidney Disease Glossary
• Polycystic Kidney Disease Index

What is autosomal dominant PKD?

Autosomal dominant PKD is the most common inherited disorder of the kidneys. The phrase "autosomal dominant" means that if one parent has the disease, there is a 50 percent chance that the disease gene will pass to a child. In some cases-perhaps 10 percent-autosomal dominant PKD occurs spontaneously in patients. In these cases, neither of the parents carries a copy of the disease gene.

Many people with autosomal dominant PKD live for several decades without developing symptoms. For this reason, autosomal dominant PKD is often called "adult polycystic kidney disease." Yet, in some cases, cysts may form earlier in life and grow quickly, causing symptoms in childhood.

Picture of polycystic kidney, roughly retains the same shape as the healthy kidney.

The cysts grow out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cysts-which can number in the thousands-while roughly retaining their kidney shape. In fully developed autosomal dominant PKD, a cyst-filled kidney can weigh as much as 20 to 30 pounds. High blood pressure is common and develops in most patients by age 20 or 30.

What are the symptoms of autosomal dominant PKD?

The most common symptoms are pain in the back and the sides (between the ribs and hips), and headaches. The dull pain can be temporary or persistent, mild or severe.

People with autosomal dominant PKD also can experience the following complications:

• Urinary tract infections, specifically in the kidney cysts
  
  
• Hematuria (blood in the urine)
  
  
• Liver and pancreatic cysts
  
  
• Abnormal heart valves
  
  
• High blood pressure
  
  
• Kidney stones;
  
  
• Aneurysms (bulges in the walls of blood vessels) in the brain
  
  
• Diverticulosis (small pouches bulge outward through the colon).

Suggested Reading by Our Doctors

• Creatinine Blood Test - Learn more about the creatinine blood test, a test that measures kidney function. Abnormal creatinine levels in the blood may indicate kidney disease.
• Urinary Tract Infection (UTI In Adults) - Learn about urinary tract infection causes, symptoms, signs, diagnosis and treatment of UTIs in men and women. Antibiotics may be used to treat recurrent bladder infections.
• CT Scan (Computerized Axial Tomography) - CT Scan (Computerized Axial Tomography, CAT scan) is a procedure that assists in diagnosing tumors, fractures, bony structures, and infections in the organs and tissues of the body.

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