Polycystic Kidney Disease
What is Polycystic Kidney Disease?
Polycystic Kidney Disease is a genetic disorder that causes thousands of fluid-filled cysts to grow inside both kidneys.
PKD is quite different to the “simple”, generally harmless kidney cysts that 50% of people grow after the age of 50.
PKD cysts can actually change the shape of your kidneys, making them larger and reducing healthy kidney tissue, which in turn makes it more difficult for kidneys to function properly.
The condition can also exacerbate high blood pressure and issues with the blood vessels of the heart and brain.
There are two main types of PKD.
The first is Autosomal Dominant PKD (ADPKD), the most common form, where people develop many fluid filled cysts in the kidneys, liver, pancreas and other organs.
ADPKD is generally diagnosed in adulthood and is inherited from one parent.
There is a one in two chance of passing the faulty gene onto children.
The second kind of Polycystic Kidney Disease is Autosomal Recessive PKD (ARPKD) which is much less common, generally diagnosed soon after birth, and typically a childhood disease.
In this case, both parents must have the gene with a 25% chance of passing on the faulty gene to each child they have.
Both conditions can lead to kidney failure and liver problems later in life.
ADPKD impacts 1 in every 400 to 1000 people in the world and ARPKD has an incidence of about 1 in 20,000 children.*
How is PKD diagnosed?
A diagnosis of PKD is generally confirmed via ultrasound. To be diagnosed there must be a certain number of cysts on the ultrasound.
When many cysts are found, the patient will then require a physical examination, blood tests to measure kidney function and urine tests to look for blood and protein in urine.
Does PKD mean the kidneys always fail? Will I need a kidney transplant?
Many people with PKD do not develop symptoms until they are 30 or 40* years old.
About 50 percent of people with PKD will have kidney failure by age 60, and about 60% will have kidney failure by age 70.
These people will need dialysis or a transplant, and people in the highest risk group are those with high blood pressure, those who have protein or blood in their urine, or women with high blood pressure who have had multiple pregnancies.
For those who undergo kidney transplantation, the new organ will no longer develop cysts and is most often successful.
What are the symptoms of Autosomal Dominant Polycystic Kidney Disease?
The symptoms and signs of ADPKD include:
- Back or side pain between the ribs and hips often with headaches (together the most common symptoms)
- Urinary tract infections in the cysts
- Blood in urine (hematuria)
- High Blood Pressure
- Kidney Stones
- Abnormal Heart Valves
- Diverticulosis (colon condition)
- Chest pounding or chest pain
- Increased Abdominal Size
What are the symptoms of Autosomal Recessive Polycystic Kidney Disease?
The signs and symptoms of ARPKD include:
- Reduced fluid surrounding the baby in utero which can lead to unusual shaped face
- Delayed or Difficult Childbirth
- Heart and Lung Defects
- Swelling of the Abdomen
- Kidney failure in early life
- Anemia
- Blood in the liver
- Failure for the baby to thrive
What is the treatment for Polycystic Kidney Disease?
The cornerstone treatment of PKD is lifestyle change which includes:
Good blood pressure control – This protects kidney function and slows down the growth rate of cysts.
Dietary changes – These may include reducing salt, protein, cholesterol, alcohol and caffeine.
Smoking cessation. Smoking can speed the progression of PKD.
Exercise – Movement assists with weight control and reduces the risk of complications.
Antibiotic treatment for infection or UTIs and pain medications for pain that may accompany severe back pain, bleeding, stones or infection.
Transplant or dialysis is used where End Stage Kidney Disease develops, which usually occurs over many years.
A new medication has recently been approved and PBS listed with early stage CKD (2 to 3) and rapidly progressing ADPKD. Dr Gujadhur can discuss your suitability and update you on new treatments and clinical trials.
Further Reading