Polycystic Kidney Disease (PKD) is an inherited disease (transmitted from a parent to their child through genes). It is divided into two types: Autosomal Dominant Polycystic Kidney Disease (ADPKD). and Autosomal Recessive Polycystic Kidney Disease (ARPKD). ADPKD is the most common and affects approximately 13 million people worldwide of all genders and ethnic groups. ARPKD, on the other hand, is very rare. It affects babies and young children, and is very serious.
PKD causes fluid-filled cysts in the kidneys. These cysts multiply and grow non-stop, breaking the structure of the kidneys. It is this destruction of the kidneys that can lead to kidney failure in the patient suffering from this disease.
In this article, I will only talk about Autosomal Dominant Polycystic Kidney Disease (ADPKD), since this is the version of the disease that I have and know.
To learn more about ARPKD:
The basis of ADPKD
A normal kidney is about the size of a closed fist and weighs about a third of a pound, while a polycystic kidney can grow to the size of an American football and weigh up to 30 pounds! This enlargement of the kidneys can become very uncomfortable and can even cause pain and nausea, since the kidneys can weigh on other organs. Cysts can also burst, causing severe pain and sometimes blood in the urine.
When the disease is advanced enough, some people who suffer from it begin to have kidney failure (to learn more about the stage of kidney failure, click here), first of all with pretty much no impact on everyday life. If kidney function is less than 15%, then one falls into end-stage renal failure, when the kidneys no longer filter the blood well enough to keep the person alive in the long term without treatment.
Prevalence
PKD is an inherited disease. About 10% of people who have the disease have had a spontaneous mutation in their genetic code and are the only ones in their family who have the disease, but they can still pass the disease on to their children. A parent with PKD has a 50% chance of transmitting the disease to each of their children. Between 1 in 400 to 1 in 1000 Canadians have this disease and 600,000 Americans currently suffer from this hereditary disease. In all, about 13 million people around the world have to live with this reality.
Symptoms
Many people don’t know they have the disease because they often don’t have any symptoms throughout their lives.
Some people who have the disease will have to live with kidney failure, which has several stages. When the person reaches stages 4 and 5, other symptoms may appear such as:
- Fatigue
- Loss of appetite or weight loss
- Hypertension (it is very important to control your blood pressure, especially when you have kidney failure so as not to precipitate the decline in kidney function)
- Difficulty urinating
- Cloudy or bloody urine
- Itching
- Difficulty sleeping
- Difficulty breathing (due to anemia caused by kidney failure)
- Nausea and vomiting
- Muscle cramps
- Difficulty concentrating
- Edema (swelling) of the eyelids, hands and feet
- Anaemia
Warning: I am not a doctor and the list is not exhaustive because in my research, some sites contain more symptoms than others. I have chosen from this list the symptoms that I have seen most often. If you’re experiencing some of these symptoms, it doesn’t mean you have the disease, but if you’re worried, don’t hesitate to talk to your doctor.
It is important to know that not all people who have PKD will develop kidney failure. Another fact to know is that the family history of disease progression is not always a good indicator of disease progression.
Possible treatments
Unfortunately, there is no cure for the disease, apart from a drug (tolvaptan) that can reduce the progression of the disease, at the cost of multiple side effects (such as the need to drink between 4 and 6 liters of water per day and possible liver problems that are checked several times a year by blood tests).
When you reach the stage of end-stage kidney disease, where I am now, the only possibilities to prolong life are dialysis and kidney transplantation.
It is for this reason that the PKD community needs to collect donations, to fund research on an effective treatment and finally to overcome this disease that prevents us from living fully!
Learn more
Tolvaptan (Jinarc): https://www.youtube.com/watch?v=DvF_E2F0ySk
Stages of renal failure and associated symptoms: https://www.kidneyfund.org/kidney-disease/chronic-kidney-disease-ckd/stages-of-chronic-kidney-disease/
More information on PKD: https://pkdinternational.org/what-is-pkd/adpkd
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