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Polycystic Kidney Disease

Polycystic kidney disease (PKD) is a condition that is inherited. This condition causes clusters of cysts to develop within the kidneys, making them become enlarged and causing them to lose function over time. The cysts can vary in size, and the progression of the disease can be slow or rapid, depending upon your unique presentation.

PKD can also cause cysts to develop elsewhere in your body. This means that the symptoms related to this condition can grow quite complex over time and can involve many different organs. Some of the complications of this condition are manageable and preventable, and there are treatments you can use to manage your symptoms after diagnosis.

Symptoms

The common symptoms of polycystic kidney disease are:

  • High blood pressure
  • Pain in the side or the back
  • Blood in the urine
  • Distended abdomen due to enlarged kidneys
  • Headaches
  • Kidney failure
  • Kidney stones
  • Urinary tract infections
  • Kidney infections

Sometimes the symptoms of this condition are very mild at first, which can lead to a delay in diagnosis. It may take years before your symptoms become severe enough that you will be diagnosed with PKD.

Causes & Risk Factors

Polycystic kidney disease is a genetic disease. This means that the condition runs in families. The cysts on your kidney develop due to a gene mutation that can happen spontaneously. There are two main types of this condition:

  • Autosomal dominant polycystic kidney disease (ADPKD)

In this version of PKD, symptoms develop between the ages of 30 and 40. This condition can still be developed in children, but it is much more common in adults.

  • Autosomal recessive polycystic kidney disease (ARPKD)

This type of PKD is less common. This type of PKD shows up right after birth. Symptoms can also be delayed until childhood or adolescence. Both parents need to carry the abnormal gene for a child to present symptoms of ARPKD.

Since this condition is genetic in most cases, you will be at risk if one or both of your parents carries the gene that causes this condition. In spontaneous cases, it is thought that enlarged kidneys, hypertension, episodes of repeated kidney infection, and having had multiple children can all predispose you to develop PKD.

Diagnosis

The diagnosis of PKD is often made using ultrasound to look at kidney health. This also helps to get an impression of the size and severity of the cysts that are impacting kidney function. A CT scan can also be used to help take images of the kidneys and surrounding organs to see if PKD is the reason for the symptoms that you have been experiencing. When a more detailed look is needed, an MRI might be ordered to take very detailed images of your body.

Treatment & Prevention

Prevention is mainly focused on counselling carriers of the PKD gene about what to do if they are thinking of having children. A genetic counsellor can help determine the risk you and your spouse will contribute to any children you have if you carry the gene for PKD. You should be sure that you keep your kidneys healthy and eat a well-rounded diet. Exercise might also be a good preventative measure for PKD. Quitting smoking is another good idea if you are worried about PKD.

Treatment of PKD can vary from person to person. Those who have been diagnosed with this condition often have reached end-stage kidney disease by the age of 55-65.  Some people with a milder presentation of PKD might not end up with kidney failure at all. Treatment of kidney failure depends upon dialysis and medications that help the kidneys to function more effectively.

Many people have high blood pressure due to poor kidney function, so blood pressure medication will likely be needed to manage your PKD. Recurrent kidney and bladder infections might need to be managed with antibiotics. Pain management can be directed by your doctor. You will likely need to work with numerous specialists to create a care plan that will manage all of your symptoms effectively after your diagnosis.

 
 
 

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