What is PKD?
Polycystic Kidney Disease: A rare genetic condition that causes irregular growth and development of the kidneys whereby normal tissue is replaced by fluid filled cysts.
The disease comes in two different variants: Autosomal Dominant (ADPKD) and Autosomal Recessive (ARPKD).
ADPKD is transferred whereby at least one parent is a carrier of the disease and those who are carriers of the gene have a ~50% chance of passing this on to their children. It can affect each carrier differently in terms of symptoms and severity but will typically manifest in the sufferer’s early 20s.
It is usually detected by a simple ultrasound of the surrounding area which will identify whether there is the presence of cysts and any abnormalities in kidney shape and size.
ARPKD is transferred when both parents carry the gene but may not necessarily have ADPKD. This has immediate effects for the sufferer pre-birth and manifests through the presence of many tiny cysts which may also cover the liver. In approximately 30% of cases the child will die at, or shortly after birth.
What does ADPKD do to its carriers?
Ultimately, ADPKD impacts on the general function of the kidneys, including their ability to filter waste products from the blood and the regulation of blood pressure. As such, this has a knock on effect to other organs and bodily processes.
Symptoms can include:
- Kidney Failure
- High Blood Pressure
- Abdominal distention
- Abdominal pain and discomfort
- Repeat Urinary Tract Infections
- Blood in urine
- Polycystic Liver
- Kidney Stones
Given this however, someone with ADPKD can live an entirely normal life, and may even continue symptom free. ADPKD does not impact on whether someone can work, socialise, have children, drink alcohol until far later in the diseases progression, even then this can be managed in moderation.
Is there a cure?
Unfortunately, there is no cure for ADPKD, whilst the drug Tolvaptan is currently showing promising results from trials in the reduction of cyst size, the disease can only be managed by controlling blood pressure,diet and avoiding any activities that will cause harm to the kidneys.
In the case of those like Eddie who receive a new kidney, this will not be affected by the disease which will significantly improve the quality of his life and future health.