Important 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.
medullary cystic kidney disease
familial juvenile hyperuricemic nephropathy
uromodulin associated kidney disease
autosomal dominant interstitial kidney disease due to renin mutations
autosomal dominant interstitial kidney disease of unknown genetic cause
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 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
American Kidney Fund, Inc. 11921 Rockville Pike Suite 300 Rockville, MD 20852 USA Tel: (800)638-8299 Email: firstname.lastname@example.org Internet: http://www.kidneyfund.org
National Kidney Foundation 30 East 33rd Street New York, NY 10016 Tel: (212)889-2210 Fax: (212)689-9261 Tel: (800)622-9010 Email: email@example.com Internet: http://www.kidney.org
Urology Care Foundation 1000 Corporate Blvd Linthicum, MD 21090 USA Tel: (410)689-3700 Fax: (410)689-3896 Tel: (800)828-7866 Email: Info@UrologyCareFoundation.org Internet: http://www.urologyhealth.org/
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 Email: firstname.lastname@example.org Internet: http://www.kidney.niddk.nih.gov/
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 Internet: http://rarediseases.info.nih.gov/GARD/
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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
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Last Updated: 3/8/2011 Copyright 1986, 1990, 1994, 2004, 2011 National Organization for Rare Disorders, Inc.
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