Medullary Kidney Disease

Medullary Kidney Disease 1 in Families

What does this mean for MKD1 families?   

Many patients say:

  • "A lot of my family members have kidney failure."
  • "Our kidney doctor said we have an inherited kidney disease, but he is not sure of the exact name."
  • "A disease has run in my family for a long time, but no one knew what it was."
  • "I have a kidney disease, and I am worried if my children have it."

If you have MKD1, almost always one of your parents also had MKD1, and each child of yours has a 50% chance of inheriting MKD1.

How does a person get MKD1?

MKD1 is an inherited disease.  This means it is passed from one generation to the next by an affected parent, such as your father's eyes or your mother's nose.  You cannot "catch" MKD1.

There is a 50% chance that a child of a person with the disease will get the disease.  This means that a lot of family members (about half) will have kidney disease.

The medical term for this type of inheritance is autosomal dominant.  Below is an illustration of what a family tree with an autosomal dominant disease can look like:

Basic Inheritance

Can I get MKD1 if my parents do not have the disease?

If your parents do not have the disease, you cannot get it.  However, sometimes the disease is mild and may not be recognized in the parent until specific bloodwork (looking at how the kidney is working) is done on the parent to test for kidney disease.  Frequently, kidney disease has no symptoms until late in the disease or later in life.

Is MKD1 contagious?  How do other family members get MKD1?

MKD1 is not contagious.  It is a genetic disease, meaning it is inherited.  It is passed from one generation to the next.

Can MKD1 skip a generation?

No.  Only an affected parent can have an affected child.  Sometimes a parent may die at a young age, before the disease has been noticed.  Also a parent many have a milder disease and it may not be identified.  

If you do not have the mutation that causes MKD1, your children can not get it from you.

How is MKD1 diagnosed?

A genetic test must be performed to find out if the patient has MKD1, and requires a blood draw.  This is not a routine test, and is currently only used in a research setting.   Please contact Dr. Anthony Bleyer at kidney@wakehealth.edu or 336-716-4513 if you are interested in genetic testing.

I have MKD1.  Should my children be tested?

The decision to test children is difficult.  It is a decision you must make with your family and your physician.  At present there is not a specific treatment for this condition, so learning you have MKD1as a child does not change treatment in any way. 

When we are in our late teens and early twenties, we start making plans for our lives, in terms of where we will live, what our work will be, etc.  Many individuals want to find out at that time if they are affected. 

One of my children has MKD1, what type of diet should he be on?

If their kidney function is good (which it almost always is at that age – check with the child's doctor), they should be encouraged to eat the same heart healthy diet as any other children.

How can I help my family and other families with MKD1?

Research in MKD1 is a partnership between family members, doctors, and scientists studying the disease.  For example, to find the gene, we needed to compare blood samples of family members that had the disease and those that did not.  This required us to have patients who wanted to participate in the research and doctors willing to do the research.  Now that the gene is found, we need to study blood and urine samples from affected individuals further to see if we can see why the disease progresses faster in some patients than others. Please contact Dr. Anthony Bleyer at kidney@wakehealth.edu or 336-716-4513 if you are interested. 

We are also excited to be working with the Uromodulin Kidney Disease Foundation which provides support for families, doctors and researchers.  For more information, visit: ukdcure.org

This webpage provides only general information.  Please consult your physician for recommendations specific to your care.  If you think you may have this disease or another type of inherited kidney disease that no one can tell you the cause, please contact Dr. Anthony Bleyer at kidney@wakehealth.edu or call 336-716-4513.

 

Last Updated: 11-14-2014
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Disclaimer: The information on this website is for general informational purposes only and SHOULD NOT be relied upon as a substitute for sound professional medical advice, evaluation or care from your physician or other qualified health care provider.