Medullary Kidney Disease 1

"Medullary kidney disease 1 is an inherited kidney disease that leads to slowly progressive kidney failure and, in many patients, the eventual need for dialysis or kidney transplant.  Over the last decade, our team has been working to identify families that have this condition and to develop a cure.  We recently provided clinical insight and our genetic samples to scientists at the Broad Institute in Cambridge, Massachusetts, who then identified the genetic cause of this condition. With patients, doctors, and scientists working together, we will find a cure for medullary kidney disease 1."   
          -Anthony J. Bleyer, MD, MS


Medullary kidney disease type 1 (MKD1), also known as medullary cystic kidney disease type 1, is a rare type of inherited kidney disease, meaning it runs in families.  Most affected individuals have slow loss of kidney function.  As they get older, they may need dialysis or a kidney transplant.

Many times, family members will 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." 

Dr. Bleyer has focused his research on finding a cause for different types of inherited kidney disease.   In February 2013, a team of researchers, led by Drs. Eric Lander and Mark Daly at the Broad Institute and including Dr. Bleyer at Wake Forest School of Medicine®, identified the genetic cause for MKD1.

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 336-716-7162.

Last Updated: 04-07-2014
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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.