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Autosomal Dominant Interstitial Kidney Disease

Abstract

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NORD is very grateful to Anthony J. Bleyer, MD, Nephrology, Wake Forest University School of Medicine, for assistance in the preparation of this report.

Synonyms of Autosomal Dominant Interstitial Kidney Disease

  • familial juvenile hyperuricemic nephropathy
  • medullary cystic kidney disease

Disorder Subdivisions

  • autosomal dominant interstitial kidney disease due to MUC1 mutations
  • autosomal dominant interstitial kidney disease due to renin mutations
  • autosomal dominant interstitial kidney disease of unknown genetic cause
  • uromodulin associated kidney disease

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 sometime 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 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. This particular condition has also been called familial juvenile hyperuricemic nephropathy type1 or medullary cystic kidney disease type 2.

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. This condition has also been called familial juvenile hyperuricemic nephropathy type 2.

Autosomal dominant interstitial kidney disease due to MUC1 mutations (also known as medullary cystic kidney disease type1 ) is another cause of this condition. Patients with this type of autosomal dominant interstitial kidney disease have slowly progressive chronic kidney disease. They do not have any symptoms when they are young, but as they get older, their kidney function declines, and affected individuals usually require dialysis or a kidney transplant between the 3rd and seventh decades of life. Unlike the other types of the disease (uromodulin kidney disease or disease due to renin mutations), patients with MUC1 mutations do not have frequent gout, anemia or other symptoms.
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. These individuals usually have chronic kidney disease but do not have gout. Researchers are now trying to find the cause of this disease.

Organizations related to Autosomal Dominant Interstitial Kidney Disease

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