Hereditary Kidney Disorders: Polycystic Kidney Disease

There are diseases all over the body that can be partially or completely prevented by making certain lifestyle choices, but there are also conditions that are present from birth and cannot be prevented. These are called hereditary conditions, or inherited conditions.

The kidneys can be affected by both lifestyle choices and genetics. Many forms of kidney disease and kidney failure are conditions that develop during the adult years, and can be prevented with some of the right habits. Many others are inherited, such as polycystic kidney disease (PKD).

Polycystic kidney disease is a condition where clusters of cysts – little round sacs full of fluid – grow in the kidneys and surrounding areas. These cysts accumulate fluid and grow larger, and they can cause problems when they get too big. Here’s a look at the basics of polycystic kidney disease.

 

Symptoms and Complications

The cysts in polycystic kidney disease can cause several noticeable symptoms:

• Headaches
• Frequent urination and blood in urine
• Back pain or side pain
• High blood pressure
• Kidney stones
• Enlarged abdomen
• Kidney failure
• Kidney or urinary tract infections

 

The cysts are invasive in the kidneys, but they can also spread to other areas nearby. Some of the major complications they can cause, both in the kidneys and elsewhere include:

• Chronic high blood pressure: This is one of the most common results of polycystic kidney disease.
• Kidney failure and loss of kidney functions: Kidney failure hits over half of polycystic kidney disease patients before they reach the age of 60.
• Cysts in the liver: Cysts can travel to the liver and begin growing there.The risk of this increases as you get older, and may be slightly more common or dangerous in women.
• Pregnancy complications: Most pregnant women with polycystic kidney disease can have a safe pregnancy, but in rare cases, it can cause them to develop a disease called preeclampsia, which is life-threatening.
• Heart valve abnormalities: Up to one in four polycystic kidney disease patients develop a condition called mitral valve prolapse, where blood leaks back away from the heart.
• Brain aneurysm: There is a higher risk of brain aneurysm for people with polycystic kidney disease.
• Chronic pain
• Colon problems: Pouches or sacs in the colon may develop as a result of PKD.

 

Causes

Genetic abnormalities are the primary cause of polycystic kidney disease, and there are two major genetic defects that can cause it:

Autosomal dominant polycystic kidney disease (ADPKD): This is a disease passed on by a dominant gene, meaning only one parent needs to have the disease for it to be inherited. Each child has a 50 percent chance of getting it if one parent has it. In most ADPKD cases, symptoms aren’t visible until between ages 30 and 40, though it can be present in children. ADPKD makes up about 90 percent of all polycystic kidney disease cases.

Autosomal recessive polycystic kidney disease (ARPKD): This accounts for the other 10 percent of cases. ARPKD is passed on by a recessive gene, meaning both parents must have it, and the chances of the child getting it are 25 percent in these cases. Symptoms are often present directly after birth, though sometimes they don’t appear until later in childhood or teen years.

 

Diagnosis

Diagnosing polycystic kidney disease is done using a few different tests:

• CT scan: A series of X-rays that gives your doctor multiple-angle views of your kidneys
• Ultrasound: Using ultrasonic waves and a device to track them and convert them into images
• MRI (magnetic resonance imaging): Imaging using magnetic fields and radio waves

 

Treatment and Prevention

There is no cure for polycystic kidney disease, and most of the treatment focuses on limiting symptoms and potential complications including:

• High blood pressure: Through a combination of diet, exercise and medication. The right approaches can slow down the progression of the disease in your body.
• Cyst complications: As a last resort, surgery may be required to drain cysts.
• Infections: Infections are treated with antibiotics.
• Pain: This is usually treated with pain medication, but sometimes pain is so severe that you’ll need surgery.
• Kidney failure: This requires dialysis or kidney transplant.
• Liver cysts: Surgery or other forms of treatment might be appropriate if conservative methods are not successful.
• Aneurysms: If present, aneurysms will be surgically clipped. Other lifestyle-based preventive measures may be an option if the aneurysm is small enough.
• Blood in urine: Dilution (drinking lots of fluids) and bed rest are usually recommended.

 

Because it is inherited, there’s no way to actively prevent polycystic kidney disease. However, people with the disease who are thinking of having children should consider their risk of passing it on, and can take several precautions that might make it less likely they pass it on.

If you’re concerned you’re showing the signs of polycystic kidney disease or may have passed it on to your children, speak to your doctor.

 

Are you concerned about your kidney function? Talk with your primary care physician about seeing a nephrology specialist.

 

Sources:

“Polycystic Kidney Disease.” National Kidney Foundation. https://www.kidney.org/atoz/content/polycystic

“Polycystic kidney disease.” The Mayo Clinic. http://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/basics/definition/con-20028831