Is Kidney Disease Hereditary?

Hereditary kidney disease can impact family members in each generation. Learn about the different types of hereditary kidney disease and what to look for.

In recent years, doctors and geneticists have learned a great deal about hereditary kidney disease. They now know that 200-300 human genes have been linked to conditions affecting the kidney, and better testing has followed this discovery. But the question remains: How common is hereditary kidney disease?

“It’s estimated that 15%-20% of kidney diseases are hereditary, meaning they clearly result from a genetic mutation,” says Fadi Tohme, MD, a nephrologist with Keck Medicine of USC.

It’s hard to pin down the exact number of hereditary kidney diseases, however, because so many factors play a role in whether a person develops kidney disease. Plus, people can carry genes for some conditions without ever getting sick.

Dr. Tohme shares the most common forms of hereditary kidney disease, what people can do to monitor their kidney health and what to do when a genetic test comes back positive.

Examples of hereditary kidney disease

While kidney disease is commonly tied to other conditions such as hypertension and diabetes, there’s also a wide range of hereditary conditions that affect only the kidney. Three common examples are:

Polycystic kidney disease

“About 6%-10% of all dialysis patients have polycystic kidney disease, a progressive condition where cysts start to develop on the organ as early as age 25,” Dr. Tohme says. “As the cysts get bigger and more numerous over time, they eventually impede function and later lead to kidney failure.”

There are two types of polycystic kidney disease: one that requires a gene mutation from only one parent, and another version that requires both parents to pass down the mutation.

Medullary cystic kidney disease

This condition also results in cysts, but these develop in the medulla — the innermost part of the kidney. As a result, the kidneys may appear smaller over time rather than bigger (as they do with polycystic kidney disease). Unfortunately, it’s not uncommon for people with this condition to need dialysis between the ages of 40 and 50.

Congenital anomalies of the kidney and urinary tract

This term relates to patients who were born with only one kidney, or with one healthy kidney and one underdeveloped kidney. When these babies grow into adulthood, they often have a predisposition to end-stage renal disease. This doesn’t happen all the time, but it has been linked to a genetic anomaly.

Diabetes and hypertension

“When diabetes and hypertension are left unmanaged for too long, they can each lead to serious kidney disease,” Dr. Tohme says. “While a range of factors can lead to both diseases, they also have a genetic component that can lead to a person having a predisposition to them.”

A predisposition isn’t necessarily a guarantee of getting sick, but it’s always a good idea for anyone predisposed to a health condition to take extra care of themselves and to get regular check-ups with their doctor.

When to see a genetic counselor

“If you have a parent with polycystic kidney disease or kidney damage that started at a younger age, you should probably go ahead and get genetically tested early,” Dr. Tohme says.

And because hypertension can sometimes result from kidney problems, younger people (ages 20-40) who suddenly develop high blood pressure, unexplained puffiness around the eyes or swelling in the lower extremities should also consider testing.

Other signs of hereditary kidney disease can show up in the urine itself.

“There’s usually blood in the urine, though a person wouldn’t see it every time they go to the bathroom,” Dr. Tohme says. “It would be more likely to show up as blood or protein in their urine tests.”

Other signs include bloody urine that presents with a cold or other infection, as well as foamy urine.

If these symptoms develop, it’s important to see a doctor right away. Dr. Tohme advises people not to panic, though.

“It’s very rare that someone with these symptoms will need to go straight on dialysis,” he says. “But it’s still important to get a genetic profile done so you can inform family members who might also need testing.”

When a genetic test comes back positive

There’s actually a major benefit to knowing about a genetic mutation related to hereditary kidney disease: The patient knows what they’re at risk for, and they can use this knowledge to try to stay healthy for as long as possible.

“Proper hydration is a good way to prevent, delay or slow most kidney diseases,” Dr. Tohme adds. “Aim to drink 64 to 80 ounces of water a day, or two to three liters.”

He also advises patients to limit dining out or ordering takeout, since restaurants are more likely to use higher levels of salt in their food, which can contribute to hypertension. Maintaining one’s weight and staying active can also help.

“It’s also good to avoid certain medications that are harmful to kidneys, such as NSAIDs like ibuprofen or naproxen, or protein pump inhibitors for GERD,” Dr. Tohme says.

Can hereditary kidney diseases be cured?

If kidney disease is the result of diabetes or blood pressure, then managing the root condition can significantly help the kidneys. Hereditary diseases that primarily affect the kidneys, on the other hand, are more likely to progress to the point of kidney failure.

Still, Dr. Tohme encourages patients to stay hopeful. There are new medications to slow the progression of these diseases, with others in the works. He adds, “The positive thing about a hereditary kidney disease is that donor kidneys are tested and confirmed to not have those mutations. So once the patient gets a transplant, they no longer have to worry about having the genetic disease. They only carry it in their DNA.”

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