Genetic diseases of the kidney occur when there is mutation (change) in a gene that prevents your body from working properly. These mutations can affect the function of your kidneys, leading to kidney disease. If not diagnosed and treated early, kidney disease can lead to kidney failure.

Genetic diseases of the kidney vary widely. You could have a genetic disease of the kidney that only requires you to see your doctor once a year for a check-up. Or you could have another kind that requires extensive treatment and dialysis.

Some people are diagnosed with genetic diseases of the kidney when they’re infants or children, because they have a parent or other relative with the same genetic mutation. This leads their family to get a genetic test done. However, most people aren’t diagnosed with a genetic kidney disease until adulthood.

Types of Genetic Kidney Disease

There are over 60 genetic diseases known or suspected to affect the kidneys. Some of the more common genetic diseases of the kidney are:

Polycystic kidney disease

People who have polycystic kidney disease (PKD) are born with a gene that causes cysts to form and replace healthy kidney tissue. Cysts can also grow on other organs. The cysts enlarge the kidneys and prevent them from working properly, which can lead to kidney failure.

Fabry disease

Fabry disease is a rare genetic disorder that results in the absence of an enzyme that breaks down fats, carbohydrates, proteins and other substances. When your body cannot break down these substances, it can lead to complications with the heart, kidneys, skin, eyes, ears, brain and other organs. It can be painful.

Focal segmental glomerulsclerosis

Focal segmental glomerulsclerosis (FSGS) is a rare glomerular disease that can be caused by a genetic mutation that results in scarring on the glomeruli (tiny filters in your kidneys) and can lead to kidney failure.

Alport syndrome

Alport syndrome, also known as hereditary nephritis, can be inherited from a parent and cause kidney disease, among other symptoms like hearing and/or vision loss.

Genetic kidney disease symptoms

Most people who have a genetic disease of the kidney do not have any symptoms directly linked to kidney disease. The only way to know if you have a genetic disease of the kidney is to be evaluated by a doctor. If kidney disease has progressed to a severe stage, you may have the following symptoms:

  • Swelling in the hands, feet and limbs
  • High blood pressure
  • Headaches
  • Fatigue
  • Urine that appears foamy

Genetic kidney disease diagnosis

Your doctor can perform the following tests to diagnose a genetic disease of the kidney:

  • Blood test – Your doctor will take a sample of your blood and check the levels of specific markers, like serum creatinine, potassium, calcium and phosphorus. If these levels are too high or too low, it can indicate that your kidneys are not working properly.
  • Urine test – Your doctor will have you provide a urine specimen that will be tested for albumin, a protein that may leak through damaged kidneys and into the urine. If albumin is present in your urine, you may have kidney disease.
  • Genetic testing – Your doctor will take a sample of your blood and send it to a lab to evaluate it for any genetic mutations. Genes commonly associated with kidney disease, such as APPL1, will be screened. This can take several weeks. Genetic testing is a definitive way to know if you have a genetic disease of the kidney.

Genetic kidney disease treatment

Treatment for genetic kidney diseases depends on what kind of genetic disease you have and what stage of kidney disease you’re in. Some genetic diseases of the kidney are mild and require only a once-a-year appointment with your doctor to monitor your condition. Other genetic diseases of the kidney require daily medication, dialysis several times a week, and/or even kidney transplant.

Ohio State has a team of doctors and scientists who specialize in genetic diseases of the kidney. They partner to provide the most advanced treatments and strategies to manage symptoms and slow the progression of kidney disease. Treatments may include:

  • Medication - Ohio State offers the latest in medications to manage genetic diseases of the kidney, including tolvaptan and chaperone therapy. Other medications can be used to address possible complications, such as high blood pressure, pain and stroke risk.
  • Enzyme replacement therapy – If your genetic disease impairs enzyme activity, your team of doctors can prescribe enzyme replacement therapy. This delivers enzymes directly into your bloodstream via an intravenous (IV) infusion. You’ll receive an infusion every two weeks. Enzyme infusions can be done at Ohio State or in your home.
  • Clinical trials – At any point in time, Ohio State has 10 to 20 active clinical trials focused on innovative treatments for kidney diseases that are rare or ultra-rare. These trials allow you to gain access to the latest and most advanced medications and treatments.
  • Lifestyle modifications – Your team of doctors may recommend changes in your diet and habits that can help improve kidney function and whole-body health. These include eating a low-sodium diet, participating in regular physical activity, and avoiding harmful substances like tobacco and alcohol.
  • Counseling and education – Your doctors will provide you with the latest knowledge on genetic diseases of the kidney and how to manage your disease. They’ll counsel you on how to share this information with your family so that your relatives can be tested and receive treatment if needed. They’ll also guide you if you plan to start a family.
  • Dialysis or kidney transplant - If kidney failure does result, Ohio State offers hemodialysis and peritoneal dialysis at our clinics or in your home. If a kidney transplant is needed, Ohio State performs more than 265 kidney transplants a year. This means you benefit from one of the most experienced programs in the country.

Learn more about kidney care at Ohio State.

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