As you could probably imagine, polycystic kidney disease is a genetic disorder that affects the kidneys by way of multiple cysts. Slowly, the cysts overtake healthy kidney tissue and can cause irreversible damage. As the tissue becomes damaged, kidneys lose their functionality and ability to filter waste from our blood. Polycystic Kidney Disease (PKD) can develop cysts on other internal organs, including the liver — another powerhouse of filtration for our bodies.
PKD can be autosomal recessive or dominant; recessive PKD can be tragic and cause infants to pass while still in utero or shortly after delivery, though some will survive into adulthood. Autosomal Dominant Polycystic Kidney Disease carries an average life expectancy of between 53 to 70 years.
Raising Awareness Through Education
In Canada, we recognize September 4 as being PKD Awareness Day. We encourage you to use the hashtags #PKDAwarenesDay and #Sept4 to help talk about this chronic illness so that we can bring more awareness to the cause and hopefully develop better treatments for the 66,000 Canadians living with PKD.
PKD is largely an inherited disease and can be either autosomal dominant or recessive. In the autosomal dominant PKD, symptoms begin in adulthood although the cysts themselves can begin to develop in childhood. Autosomal dominant PKD is most often diagnosed between the ages of 30 and 40. Autosomal recessive PKD is more rare and can be diagnosed as early as before a baby is even born, but can also be missed and not diagnosed until childhood.
Autosomal Recessive Polycystic Kidney Disease in Children and Fetuses
For autosomal recessive PKD, some infants may pass before or shortly after birth due to respiratory failure. It is an incredibly devastating ailment causing the loss of life at a very young age for those who suffer from this rare disease. Children who survive into adulthood will often go on to develop kidney failure before they reach adulthood. These children may have frequent urinary tract infections, high blood pressure, liver scarring (cirrhosis), varicose veins, stunted growth, and low blood cell counts.
Diagnosis is often done though ultrasound — either in vitro/during pregnancy or after birth an ultrasound of the kidneys and the liver are used in diagnosis. Unfortunately, there is no cure for this disease and so treatment largely includes symptom management only. Once they progress into kidney failure, dialysis and transplants can be considered.
Autosomal Dominant Polycystic Kidney Disease in Adults
As noted above, autosomal dominant PKD is most often diagnosed between the ages of 30 and 40. Although the cysts can begin to form on the kidneys and other vital organs much earlier than that, it is most common for these cysts to show signs and symptoms in middle adulthood.
Signs and symptoms of PKD in adulthood include high blood pressure, frequent urinary tract infections, blood in urine/hematuria, kidney infections, kidney stones, kidney failure, pain in your back or sides, a sense of fullness in your abdomen and even an increase in the diameter of your abdomen; and headaches with no explainable cause.
Oddly, those who suffer with autosomal dominant polycystic kidney disease may also have heart valve abnormalities and be at an increased risk of brain aneurysms.
Much like the recessive type of PKD, dominant PKD is diagnosed via ultrasound of the kidneys. Other imagine might also be used, such as MRI or CT scans. In some cases, genetic testing may also be performed, but isn’t necessarily required to diagnose PKD.
As with the recessive type, treatment is much the same in that it focuses on helping symptoms and not curing of the disease as it is incurable. Blood pressure management is used to help control high blood pressure, and dialysis and transplants are considered when kidney failure is suspected and progressed to end stage disease.
