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Inherited Kidney Diseases

Inherited kidney diseases — also known as hereditary kidney diseases — are genetic conditions that affect kidney function and are often passed from biological parents to their children. There are more than 300 genetic kidney disorders, many of which are very rare. Some affect only the kidneys, while others affect other organs as well.

The experts at UPMC specialize in treating all types of inherited kidney disease. Our team will develop a treatment plan to manage your symptoms and reduce your risk of complications.

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On this page

  • What Is Inherited Kidney Disease?
  • What Are the Symptoms of Inherited Kidney Disease?
  • How Do You Diagnose Inherited Kidney Disease?
  • How Do You Treat Inherited Kidney Disease?

What Is Inherited Kidney Disease?

Inherited kidney diseases — also known as hereditary kidney diseases — are genetic conditions that affect kidney function and are often passed from biological parents to their children. There are more than 300 genetic kidney disorders, many of which are very rare. Some affect only the kidneys, while others affect other organs as well.

What are the types of inherited kidney disease? 

Autosomal dominant polycystic kidney disease (ADPKD)

The most common inherited kidney disease is autosomal dominant polycystic kidney disease (ADPKD). People with ADPKD form cysts on their kidneys, which fill with fluid and damage the kidneys over time.

Doctors can usually diagnose ADPKD before age 40 when kidney function is still normal. But it's crucial not to wait until kidney function begins to decline to start treatment for ADPKD.

Early treatment can delay the progression of the disease by many years. People with ADPKD can also develop kidney infections, kidney stones, and blood in their urine for other reasons that may require additional treatment.

Other inherited kidney diseases

Other common inherited kidney diseases include:

  • Alport syndrome — Affects between 30,000 and 60,000 people in the U.S. and causes blood and protein loss in the urine. Over time, it also causes kidney failure. It usually occurs in teenagers or young adults but can happen at an older age.
  • Cystinosis — Causes a build-up of crystals in the kidney tubules, leading to Fanconi's syndrome. People with this syndrome lose excess electrolytes, amino acids, and other essential substances in their urine.
  • Fabry disease — Causes kidney disease that can be hard to diagnose. People with Fabry disease often have heart disease, visual problems, burning sensation of the skin, and possibly a decreased ability to sweat. Early diagnosis and treatment are vital.
  • Thin basement membrane disease — Affects less than 1% of people in the U.S. It causes blood in the urine and can only be diagnosed with a kidney biopsy.
  • Bartter syndrome — Refers to a group of rare diseases that cause excess loss of sodium, acid, potassium, calcium, and magnesium in the urine. Gitleman syndrome is a related disorder that causes excess loss of the same ions — except calcium — in the urine.
  • Focal and segmental glomerulosclerosis (FSGS) — Leads to protein loss in the urine. It can lead to nephrotic syndrome, which causes severe swelling and malnutrition. FSGS has both hereditary and nonhereditary causes, which doctors treat differently.

Congenital kidney conditions

Congenital abnormalities of the kidney and ureteral tract (CAKUT) are a group of disorders that cause you to have either:

  • Only one kidney.
  • One small kidney.
  • Malpositioned kidney.
  • Changes in how urine from your kidneys drains into your bladder.

Doctors most often diagnose CAKUT during childhood, but the disease doesn't show up in some infants. When CAKUT affects adults, they either have a single kidney or chronic kidney disease of unknown cause.

What causes inherited kidney disease?

Each person has around 25,000 genes in every cell, including two copies of each gene — one copy from each parent.

Changes in your genes or the chromosomes containing those genes can lead to inherited kidney disease. While parents may pass these mutations to their children, inherited kidney disease can also occur randomly when genes mutate, even without a family history of kidney disease.

Recessive hereditary kidney diseases

Recessive hereditary kidney diseases need a mutation on both copies of a gene to cause disease, with one mutation coming from each parent.

The parents might not have had the disease but are “carriers" of it. A person is a carrier if one copy of their gene has a mutation and one copy does not.

Most people with recessive hereditary kidney diseases have parents who do not have the disease but may have another family member who has it.

Dominant hereditary kidney diseases

Dominant hereditary kidney diseases only need a mutation on one copy of a gene to cause disease.

Adults with these mutations also have a normal copy of the gene. The chance that each child will inherit the copy with a mutation is 50%.

What are inherited kidney disease risk factors and complications?

Inherited kidney disease risk factors

Family history is the biggest risk factor for hereditary kidney disease. However, other health problems may impact the severity of your symptoms and whether you’ll develop complications such as kidney failure.

Conditions that increase risk include:

  • Diabetes.
  • Heart disease.
  • High blood pressure.
  • Kidney infections.
  • Kidney stones.

Complications of inherited kidney disease

Left untreated, inherited kidney conditions can damage your kidneys over time and lead to end-stage kidney disease. End-stage means your kidney function can no longer support your body's needs, and you need dialysis or a kidney transplant.

How can I prevent inherited kidney disease? 

Living a healthy lifestyle and controlling conditions like high blood pressure and diabetes can help manage inherited kidney disease symptoms.

How common is inherited kidney disease?

Most inherited kidney diseases are very rare.

Back to top.


What Are the Signs and Symptoms of Inherited Kidney Disease?

Inherited kidney disease symptoms can vary from mild to severe. Some people don't have any symptoms at first. Over time, they may start or get worse.

Check with your doctor if you have any of these symptoms:

  • A heavy feeling or swelling in your belly.
  • An increase in blood pressure.
  • An increase or decrease in the amount of urine you make.
  • Blood in your urine or urine that looks foamy.
  • Fatigue or weakness.
  • Headache or trouble focusing.
  • Itching or muscle cramps.
  • Pain in your side or back.
  • Swelling in your feet or ankles.

Fluid and waste buildup in your body can cause these symptoms. They may be a sign that your kidneys aren't working as they should.

When should I see a doctor about my inherited kidney disease symptoms?

If you have symptoms of kidney disease, you should schedule an appointment with your doctor right away.

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How Do You Diagnose Inherited Kidney Disease?

Some types of inherited kidney disease are diagnosed at birth or cause symptoms right away. However, other types do not cause noticeable symptoms and are diagnosed later in life during routine physical exams or testing for other conditions.

If you have symptoms of kidney disease, your doctor will perform a physical exam, talk to you about your health history, and order tests to diagnose your condition.

What to expect during your visit

During your visit, your doctor will:

  • Ask about any medications you’re taking.
  • Order tests.
  • Perform a physical exam.
  • Review your health history.

Tests to diagnose inherited kidney disease

Your doctor may order blood, urine, or other tests to check for signs of inherited kidney disease.

Blood tests

Blood tests include:

  • Blood urea nitrogen (BUN) — Shows how well your kidneys are filtering urea nitrogen, a waste product, from your blood.
  • Estimated glomerular filtration rate (eGFR) — Shows how efficiently your kidneys are functioning based on your age, creatinine level, and sex.
  • Serum (blood) creatinine — Shows how well your kidneys are filtering creatinine, a waste product, from your blood.

Urine tests

Urine tests include:

  • Urine albumin-to-creatinine ratio (uACR) — Looks for high levels of a protein called albumin in your urine.
  • Urine output — Tracks how much urine your body produces each day.
  • Urine protein-to-creatinine ratio (uPCR) — Looks for high levels of all types of protein in your urine, not just albumin.

Genetic tests

Genetic tests include:

  • Gene linkage testing — Looks for certain DNA “markers" in blood samples from your family members.
  • Direct DNA sequencing — Uses a blood sample from one person. Doctors study the blood sample's DNA sequence to find changes that caused the disease.

Other tests include:

  • CT scan — A test that creates images of your body's organs, bones, and tissues.
  • Kidney biopsy — A procedure that involves taking small pieces of kidney tissue for examination under a microscope to check for signs of disease.
  • MRI — Uses a combination of large magnets, radio frequencies, and a computer to produce detailed images of organs and structures within your body.
  • Ultrasound — Uses sound waves to create images of your organs to check for problems.

Inherited kidney disease prognosis

Your prognosis will depend on the type of inherited kidney disease you have and the severity of your symptoms. Your doctor will discuss your prognosis with you.

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How Do You Treat Inherited Kidney Disease?

Although there is no cure for inherited kidney disease, the goal of treatment is to keep your condition from getting worse and prevent permanent kidney damage. Your treatment will depend on your type of inherited kidney disease and the severity of your symptoms.

Treatment may include:

Lifestyle changes

Lifestyle changes may help slow the progression of inherited kidney disease. Your kidney care team will provide detailed guidance on how to change your diet and lifestyle.

Your doctor may recommend:

  • Improving your diet and exercise routines to help you achieve a healthier weight, reduce your blood pressure, and lower your blood sugar. A low-sodium diet is essential.
  • Quit smoking, limit alcohol use, and reduce stress.
  • Restrict certain nutrients in your diet, such as protein, phosphorus, or potassium. Your kidneys may not filter excess amounts of these nutrients from your blood, and they can build up to dangerous levels in your body without proper filtering.

Your doctor may refer you to other medical specialists, such as a registered dietitian or a cardiologist, to help you manage your condition.

Medicine to treat inherited kidney disease

You might need medicine if you have high blood pressure, high blood sugar, or albumin in your urine.

Your doctor may prescribe medications such as:

  • Blood pressure drugs to reduce your risk of kidney failure.
  • Diabetes drugs to lower your blood sugar.
  • Diuretics to regulate fluid levels in your body.
  • Immune-suppressing medications to treat autoimmune disorders.

Our experts in supportive care can also prescribe medicine to ease other painful symptoms.

Dialysis for inherited kidney disease

End-stage kidney disease — also called kidney failure — can cause toxic waste to build up in your body. If your inherited kidney disease leads to kidney failure, you may need dialysis, also called renal replacement therapy, to filter and clean your blood.

What happens during dialysis?

Dialysis cleans waste from your blood and helps control your blood pressure. There are two common types of dialysis:

  • Hemodialysis — Performed using a machine at a dialysis clinic or home three times a week for about three hours.
  • Peritoneal dialysis — Performed through a catheter in your abdomen at home.

How effective is dialysis for kidney failure?

If you have end-stage kidney disease, dialysis is a lifesaving treatment option. Without it, toxins and fluid would build up in your body and cause death within days or weeks.

However, for most people, dialysis is only a short-term treatment. In time, you may need a kidney transplant.

Supportive care without dialysis

Although dialysis treatments are lifesaving for many people, they can be hard and sometimes painful for others.

For people with advanced kidney disease who want to avoid dialysis treatment, renal supportive care can offer hope and comfort.

Supportive care aims to:

  • Enhance your quality of life.
  • Provide short-term treatment as you get ready for kidney transplant.
  • Treat the symptoms of kidney disease.

Kidney transplant to treat inherited kidney disease

If you have kidney failure caused by inherited kidney disease, a kidney transplant may be the key to getting you back to your healthy life. We partner with UPMC kidney transplant experts to provide care before, during, and after transplant.

Why choose UPMC for inherited kidney disease care?

When you choose UPMC for inherited kidney disease care, you will receive:

  • Access to world-class nephrology expertise — Our world-renowned experts treat the full spectrum of kidney diseases using the latest diagnostic and treatment techniques.
  • A full range of treatment options — We'll work with you to develop a treatment plan that slows the progression of your disease as much as possible and improves your quality of life.
  • Multidisciplinary care — We partner with special dialysis clinics, experts in supportive care, and kidney transplant surgeons to ensure you receive complete care.

Back to top.


By UPMC Editorial Staff. Last reviewed on 2025-04-24 by Faizan Syed, MD.

  • Inherited Kidney Diseases. National Kidney Foundation about Inherited Kidney Diseases.
  • Genetics and Kidney Disease. National Kidney Foundation.
  • Kidney Diseases. Medline Plus.
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