In people with polycystic kidney disease, the kidneys become enlarged with multiple cysts that interfere with normal kidney function. This can sometimes lead to renal failure and the need for dialysis or kidney transplantation.There are two major forms of polycystic kidney disease: autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in every 400 to 1000 people. Only about one-half of people with ADPKD will be diagnosed during the person's lifetime because the disease is often without symptoms. Autosomal dominant means that there is a 50 percent risk that an affected parent will pass the mutated gene to a child.Approximately 85 percent of families with autosomal dominant polycystic kidney disease (ADPKD) have an abnormality on chromosome 16; these people have PKD1 disease. The remaining 15 percent have a defect that involves a gene on chromosome 4; this is called PKD2 disease.
Autosomal recessive polycystic kidney disease (ARPKD, also called childhood polycystic kidney disease) is typically diagnosed in infancy, although less severe forms may be diagnosed later in childhood or adolescence.
The most common symptoms are pain in the back and the sides—between the ribs and hips—and headaches. The 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
* Cerebral aneurysm
It is usually easy to diagnose autosomal dominant polycystic kidney disease (ADPKD) in people who develop flank or abdominal pain and have a family history of ADPKD. An imaging study, such as an ultrasound, magnetic resonance imaging scan (MRI), or CT scan is usually recommended and may reveal large kidneys with multiple cysts on both kidneys. Cysts may also be seen in the liver, pancreas, and spleen.