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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.
To make an appointment with one of our experts, call 412-802-3043 or book an appointment with one of our kidney disease experts.
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:
Congenital abnormalities of the kidney and ureteral tract (CAKUT) are a group of disorders that cause you to have either:
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.
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%.
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:
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.
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:
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.
Doctors use painless imaging tests to diagnose some inherited kidney diseases, such as:
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:
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:
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:
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.
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