September 11, 2026
Article By: NKF Staff
Genes are like the body's instruction manual. They contain information that helps your body develop and function. But genes can change, creating variants. Often these are harmless. Sometimes they can directly cause kidney disease or increase a person's risk of developing it. Here’s what you need to know.
Key Takeaways
Key Takeaways
Genetic diseases are specific genetic changes that directly cause a condition.
Genetic risk variants increase the chance of developing a condition, but do not guarantee the condition.
Gather your family history and ask a doctor if genetic testing is right for you.
What is Genetic Kidney Disease?
A genetic kidney disease is caused by a change, or variant, in one or more genes that affects how the kidneys work.
Some genetic kidney diseases are inherited, meaning they are passed down from parent to child. Others occur from a new genetic change that was not inherited from either parent.
It’s important to remember that not every kidney disease that "runs in a family" is genetic. Families may share environmental factors, health conditions, and lifestyle factors that may increase their risk outside of genetics.
Types of Genetic Kidney Diseases
Many genetic conditions can affect how the kidneys filter blood, balance minerals, or remove certain substances from the body. PKD, Alport syndrome, and Fabry disease are only a few examples.
Polycystic kidney disease (PKD)
PKD causes fluid-filled cysts to grow in the kidneys. As they grow and multiply, these cysts can damage the kidneys.
The two main types of PKD are:
- Autosomal dominant PKD (ADPKD): The most common type, usually diagnosed in adults.
- Autosomal recessive PKD (ARPKD): A rarer form that usually affects babies and children.
Alport syndrome
Alport syndrome is caused by changes in genes that help make collagen, a protein that provides structure to body tissues. This condition can damage the kidneys, cause hearing loss, and create eye problems.
Learn more about Alport syndrome.
Fabry disease
Fabry disease is a rare genetic condition that causes certain fatty substances to build up in cells throughout the body, including the kidneys, heart, brain, nerves, and skin. Treatment exists to help manage the condition and protect affected organs.
What are Genetic Risk Variants?
Not every genetic change causes a disease. Some genetic changes are called risk variants.
A risk variant can make a person more likely to develop a particular disease, but it does not mean they will definitely develop it.
For example, changes in the APOL1 gene can increase the risk of some types of kidney disease. But having APOL1 risk variants does not mean that someone will develop kidney disease. Researchers believe that other factors, like a person's overall health and environment, also play a role.
When to Consider Genetic Testing
Genetic testing is not right for everyone with kidney disease.
Testing may be considered when someone:
- Develops kidney disease at a young age
- Has several family members with kidney disease
- Has kidney disease without a clear cause
- Has a known genetic kidney disease in the family
- Has symptoms that suggest a genetic condition
Knowing your family health history is the first step.
“We were blindsided when my mom and sister were diagnosed with PKD. I don’t want it to happen again to anyone in my family or to others reading this,” Tom said. “That’s why it is so important to know your family’s health history and talk about it openly.”
Your healthcare professional can help determine whether testing may be useful and explain what different results could mean.
The Future of Genetic Kidney Disease
Advances in genetic testing are helping researchers and healthcare professionals identify genetic causes of kidney disease that may have been missed in the past.
Researchers are also studying treatments that target specific genetic and biological pathways involved in kidney disease.
But there is still much to learn—and you can help move this research forward.
You Can Help Further Research on Kidney Disease
Join Rutgers' nationwide kidney genetics study from the comfort of your home. By participating, you can help scientists better understand how genetics and other factors may influence kidney disease and help build a healthier future for people and families affected by kidney disease.
Participation is entirely from home, and all participants receive a free ancestry report as part of their participation.
