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Autosomal Dominant Interstitial Kidney Disease

It is possible that the main title of the report Autosomal Dominant Interstitial Kidney Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


Disorder Subdivisions

  • uromodulin associated kidney disease
  • autosomal dominant interstitial kidney disease due to renin mutations
  • autosomal dominant interstitial kidney disease of unknown genetic cause

General Discussion

Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, and dialysis or kidney transplant is required some time between the 4th and 7th decade of life; and several types of the disease are associated with elevated uric acid concentrations in blood and gout, which usually starts in the teenage years. Not all family members are affected by gout, but many are.

There has been a lot of confusion with regards to different names given to these conditions. This has created confusion for patients and doctors alike.

The term medullary cystic kidney disease is sometimes used to describe this condition. However, many, if not most, individuals with this disease do not have medullary cysts, so this name is being used less frequently. Some doctors still use this term.

The term familial juvenile hyperuricemic nephropathy is also used. "Familial" refers to the fact that the disease is inherited. "Juvenile" refers to the fact that it is first noticed frequently in childhood. "Hyperuricemic" refers to the fact that many patients have high blood uric acid levels (this causes gout). "Nephropathy" refers to the fact that this is a kidney disease.

Autosomal dominant interstitial kidney disease currently includes the following disorders. It is likely that additional forms of this disease will be indentified.

Uromodulin associated kidney disease is the most common form of this condition. It is caused by a mutation in a gene producing a protein called uromodulin. This protein is only made in the kidney. The mutation causes affected individuals to develop gout, frequently in their teenage years, and progressive kidney disease.

Autosomal dominant interstitial kidney disease due to renin mutations is caused by mutations in the gene producing a protein called renin. Affected individuals usually develop anemia in childhood. Often, their blood potassium levels are mildly elevated, and their blood uric acid levels are also elevated. These individuals also suffer from gout frequently.

Autosomal dominant interstitial kidney disease of unknown genetic cause is the term used to describe families with this disease in whom the cause is not known. This condition is sometimes called medullary cystic kidney disease type 1. These individuals usually have chronic kidney disease but do not have gout. Researchers are now trying to find the cause of this disease.


March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637

American Kidney Fund, Inc.
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Tel: (800)638-8299

National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010

Urology Care Foundation
1000 Corporate Blvd
Linthicum, MD 21090
Tel: (410)689-3700
Fax: (410)689-3896
Tel: (800)828-7866

NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390
TDD: (866)569-1162

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated: 3/8/2011
Copyright 1986, 1990, 1994, 2004, 2011 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization for Rare Disorders

Last Updated: May 28, 2015
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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