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Inherited Kidney Disease

By Anthony Bleyer, MD

There are many different inherited kidney diseases. Often patients and doctors do not know the cause of an inherited kidney disease in their family. This webpage is intended to help patients identify the cause of kidney disease in their family. There are three things that are important to know about an inherited kidney disease:

  1. How is it inherited? It is important to know which relatives have had the disease, including brothers, sisters, and parents – but also grandparents and cousins. From this information an inheritance pattern can be determined.
  2. What are the characteristics of the urine? It is important to know for each affected family member if there is a history of blood in the urine (seen under the microscope – usually not just by looking at the urine) or protein in the urine. This helps doctors to identify what group of diseases it is in.
  3. What other symptoms are there – for instance do family members have gout, uric acid build-up, high blood potassium levels, etc? Have any family members needed dialysis or have been transplanted?
  4. Other important information is to know if any family member has ever had a kidney biopsy and to obtain the results of the biopsy if possible. Kidney ultrasounds are also helpful.

It is then important to organize this information and bring it with you when you go see your doctor – preferably a doctor specializing in kidney disease (nephrologist). Usually a nephrologist will be able to diagnose the disease and give you a specific name for the disease. If he cannot, you should ask him to refer you to an academic medical center interested in inherited kidney diseases for further help.

Is it worthwhile to know the cause of an inherited kidney disease? Yes.  There are several reasons that it is worthwhile:

  • Knowing the name of the disease may help to avoid unnecessary tests such as a kidney biopsy.
  • Sometimes specific treatments for the disease are available.
  • If one knows the cause of a disease, it is possible to find more information and learn about the disease. One can also join a patient support group for the particular disease.

We are interested in helping identify the cause of inherited kidney disease for families in whom the cause is not yet known. We have helped over 100 families identify the cause of kidney disease in their family. If you have an inherited kidney disease and do not know the cause, please feel free to contact us at

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:

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Last Updated: 08-05-2016
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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.

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