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  • Polycystic kidney disease

    Polycystic kidney disease (PKD) is a genetic condition that causes the kidneys to overgrow with cysts. These cysts are essentially fluid-filled sacs, and are not cancerous. The primary complication from PKD is reduced kidney function as the cysts impair the organs’ ability to filter wastes from the blood.

    The kidneys are two fist-sized organs located in the abdomen, near the back of the body. These organs are responsible for processing wastes and sending it out of the body in the form of urine. The kidneys also secrete specific hormones and perform a variety of other roles including blood pressure regulation, acid-base balance and blood plasma osmolality (concentrations of fluids to wastes).

    Patients with PKD will face significant challenges with kidney function over time. While a small percentage of patients develop the condition in utero or in childhood, the majority of cases develop in adults between the ages of 30 and 40. About 1/2 of patients with the most common type of PKD (autosomal dominant PKD) will progress to renal failure and end stage renal disease (ESRD). About 600,000 people have PKD and it is the fourth leading cause of kidney failure.

    Causes

    PKD is a genetic disease. Patients develop it after genes in the body mutate or change and one or both parents pass the gene on to their children. Parents may carry the gene without knowing and without ever developing the disease themselves. In some cases, researchers believe the gene may mutate on its own, without being passed down. There is no way to prevent development of the disease, but lifestyle changes, medications and surgical treatments can help patients live longer lives.

    Types of PKD

    Autosomal dominant

    This is the most common type of PKD. There is a 50 percent chance that this condition will be passed to a child even if just one parent carries the gene. This form makes up about 90% of all PKD cases and occurs most often in adults between 30 and 40 years old, but can begin in childhood for a select few.

    Autosomal recessive

    Recessive PKD is much more rare. This condition begins early and may impact babies in utero (before birth).

    Symptoms

    Because PKD can develop later in life, it is not uncommon for there to be no signs or symptoms for many years. Men and women who have a first-degree relative with the disease (a parent, sibling or child) should see their doctor to be screened for the gene.

    Symptoms of PKD can include:

    • Pain in the back and lower sides
    • Headaches
    • Urinary tract infections
    • Blood in the urine
    • Cysts in the kidneys and other organs
    • Swelling of the abdomen
    • Kidney stones
    • Kidney failure
    • Frequent urination

    Testing and diagnosis

    Cysts can be easily identified with diagnostic imaging. Testing will include an evaluation of the number of cysts present, their size, and how much healthy renal tissue remains. The most common imaging studies used are ultrasound, CT or MRI studies.

    Diagnosing PKD includes analysis of diagnostic imaging, collection of a thorough family history and genetic testing.

    Treatment

    There is no cure for PKD but management will include controlling symptoms and complications from the disease. Good blood pressure control may delay the progression of PKD, so patients will be encouraged to follow a low-fat, moderate protein, moderate calorie diet, stop smoking, and exercise. Medications may also be used to help lower and control blood pressure.

    Pain in the back and sides are common for patients with PKD. If the symptoms cannot be controlled with over the counter pain medications, your doctor may discuss surgical removal of a few of the cysts to help relieve pain and pressure.

    As PKD progresses, patients will need dialysis or a kidney transplant in order to survive. Patients who choose not to undergo these treatments may opt for palliative, or end of life care to stay comfortable.



Page last updated: 7/2/2013 11:37:13 AM