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Inherited Kidney Disease: Symptoms, Diagnosis, and Treatment

What Is Inherited Kidney Disease?

If your parents have or had kidney disease, you may be at an increased risk for certain types of inherited kidney disease.

There are more than 300 genetic disorders of the kidneys, many of which are very rare. Some affect only the kidneys, while others affect other organs along with the kidneys.

Contact the UPMC Kidney Disease Center

To make an appointment with one of our experts, call 412-802-3043 or book an appointment with one of our kidney disease experts.

Types of hereditary kidney diseases

The most common hereditary kidney disease is autosomal dominant polycystic kidney disease (ADPKD).

People with ADPKD form cysts on their kidneys. The cysts fill with fluid and damage their kidneys over time.

Doctors can diagnose ADPKD before the age of 40, at a time kidney function measurement appears normal. But, it's crucial not to wait until the kidney function begins to decline to seek advice about ADPKD.

Early treatment can delay the progression of the disease by many years. Plus, people with ADPKD can have kidney infections, kidney stones, and blood in their urine for reasons that are different than others.

A few other common hereditary kidney disorders 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 damage to cells in the kidney, leading to Fanconi's syndrome. People with this syndrome lose excess electrolytes and amino acids in the urine.
  • Fabry's disease causes kidney disease that can be hard to diagnose. People with Fabry's 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 results in blood in the urine that doctors can only diagnose by kidney biopsy.
  • Barter's syndrome is a group of rare diseases that causes 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 loss of protein from the blood into the urine. It can lead to nephrotic syndrome, with severe swelling of the body and malnutrition. FSGS has both hereditary and non-hereditary causes, which doctors treat differently.

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

  • Only one kidney.
  • A small kidney.
  • A mal-positioned kidney.
  • Changes in how urine from the kidneys drain into the bladder.

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

What causes inherited kidney disease?

Changes in your genes or the chromosomes that contain your genes cause hereditary kidney disease. Though parents can pass these mutations to their kids, it can also happen at random on its own.

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

Recessive hereditary diseases need a mutation on both copies of a gene to cause disease. And it means that one mutation must have come from each parent.

The parents might not have had the disease but are “carriers" if one copy of the gene had a mutation and one copy did not.

Most people with recessive hereditary diseases have parents without the disease, but perhaps another member of their family has it.

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

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

Inherited kidney disease risks and complications

Family history is the biggest risk factor for hereditary kidney disease. But other health problems may impact how severe your symptoms are and if you'll suffer complications like kidney failure.

Conditions that increase risk include:

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

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

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

Inherited Kidney Disease Symptoms and Diagnosis

Hereditary 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:

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

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.

Diagnosing inherited kidney disease

Doctors use painless imaging tests to diagnose some inherited kidney diseases, such as:

  • CT scan
  • MRI
  • Ultrasound

These tests let your doctor see pictures of your kidneys and learn about their size, shape, and condition.

Another way to diagnose hereditary kidney disease is through genetic tests such as:

  • Gene linkage testing, which includes learning more about your family history. Doctors look for certain DNA “markers" in blood samples from your family members.
  • Direct DNA sequencing, which uses a blood sample from one person. Doctors study the blood sample's DNA sequence to find changes that caused the disease.

Inherited Kidney Disease Treatment

While there's no cure, managing your hereditary kidney disease symptoms is crucial. At the UPMC Kidney Disease Center, we will work with you to slow the progression of your disease.

People with kidney disease should:

  • See your doctor regularly to control high blood pressure and blood sugar levels.
  • Stay hydrated. Drink plenty of water and avoid caffeine.
  • Contact your doctor right away if you have a bladder or kidney infection.
  • Talk with your doctor about safe pain-management drugs.
  • Exercise, control your weight, and eat healthy foods.

Some medicines have shown promise in treating people with hereditary kidney disease.

As your illness progresses, the UPMC Kidney Diseases Center can educate you about the various treatment options we offer, including:

  • Supportive care
  • Dialysis
  • Kidney transplant

Our world-recognized experts treat the full range of kidney diseases and are leading research into the next generation of care. You have hope at the UPMC Kidney Disease Center.