The most common types of chronic kidney disease are generally related to high blood pressure and diabetes. Usually, it develops over time and appears later in life. Polycystic kidney disease (PKD) is different.
PKD is most commonly something you are born with and inherit from your parents (although it can be spontaneously acquired on rare occasions).
What genes are associated with polycystic kidney disease?
There are a few gene mutations linked to PKD, but two of the most common are PKD1 and PKD2. When there is a mutation (or alteration in the messaging) of these genes, it may cause cysts to form on the kidneys.
The PKD1 gene is generally linked to more severe disease and a faster decline in kidney function. The PKD2 gene may cause more mild disease and slower decline in kidney function.
What are the types of polycystic kidney disease?
There are two types of PKD:
Autosomal dominant polycystic kidney disease (ADPKD)
Autosomal recessive polycystic kidney disease (ARPKD)
If you have ADPKD, only one of your parents needs to have the gene to have passed on the condition. The “dominant” gene mutation overrides the normal gene. This type of PKD is more common.
If you have ARPKD, both parents must carry the gene mutation for it to be passed on to you. The “recessive” gene mutation is not usually enough to override the normal gene, so both parents must be carriers.
If my parents carry the PKD gene mutations, will I definitely have the condition?
Your parents may carry the PKD1 or PKD2 gene mutation without passing it on to you.
If one parent is affected with ADPKD, there is about a 50 percent chance of passing the condition on to their children. If this couple had four children, the odds are that two of them would be affected.
If two parents carry ARPKD, their children have a 25 percent of being affected. Some of their children would also likely be carriers (which means they can pass it on to the next generation), but may not exhibit signs of the disease.
Knowing your family history may be helpful because early diagnosis may improve treatment outcomes. Newer medications for PKD may help preserve kidney function and reduce the need for dialysis or a kidney transplant. This may have several benefits for your overall health and quality of life.
Dr. Deshpande is a board-certified nephrologist at Mount Sinai Doctors in Brooklyn Heights.
References
Akbar, S., et al. (2024). Autosomal dominant polycystic kidney disease. StatPearls [Internet].
MedlinePlus. (2014). Polycystic kidney disease.
National Institute of Diabetes and Digestive and Kidney Diseases. (2016). Causes of chronic kidney disease.
National Institute of Diabetes and Digestive and Kidney Diseases. (2017). Autosomal dominant polycystic kidney disease.
National Institute of Diabetes and Digestive and Kidney Diseases. (2017). Autosomal recessive polycystic kidney disease.
National Institute of Diabetes and Digestive and Kidney Diseases. (2017). What is polycystic kidney disease?
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