Polycystic Kidney Disease

(PKD; Autosomal Dominant Polycystic Kidney Disease; ADPKD; Adult Polycystic Disease; Polycystic Kidney Disease Type 2)

Definition

Polycystic kidney disease (PKD) is an inherited disease that causes many cysts to form in the kidneys.Cysts, which are sacs filled with fluid, grow in both kidneys causing them to become enlarged. The number of cysts can range from a few to a great number. The size of the cysts can vary from too small to detect, to cysts that are larger than the kidney itself.
Anatomy of the Kidney
Glomerulonephritis
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Causes

PKD is caused by an inherited gene. Children have a 50% chance of developing PKD if one parent carries the gene. If a person has the PKD gene, he or she will have some form of the disease in his or her lifetime.There is also a rare form of PKD, called autosomal recessive polycystic kidney disease, that affects newborns, infants, and children. This form of PKD can cause death in the first month of life.

Risk Factors

The primary risk factor for PKD is having a parent with the disease. In about 10% of cases, the gene for the disease was not inherited, but mutated. PKD affects men and women equally.

Symptoms

During the early stages of PKD, there are often no symptoms. Some people are never diagnosed because their symptoms are mild. Most symptoms appear in middle age.Frequently, the first symptom is pain in the back or side. Other signs of PKD include:
  • Blood in the urine
  • Abdominal pain
  • Frequent urination

Diagnosis

Your doctor will ask about your symptoms and medical history. A physical exam will be done. When diagnosing PKD, your doctor may begin by looking for signs of the disease.Tests may include:
  • Blood tests
  • Urine tests
Imaging tests evaluate the kidneys. This can be done with:Ten to forty percent of patients with PKD also have an aneurysm in the brain. An aneurysm is a weakness in the wall of a blood vessel. If you are diagnosed with PKD and have a family history of a brain aneurysm, your doctor may advise an arteriogram to detect the presence of an aneurysm.

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