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Uromodulin-associated kidney disease

Uromodulin-associated kidney disease

Reviewed December 2009

What is uromodulin-associated kidney disease?

Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family.

Many individuals with uromodulin-associated kidney disease develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine. In this condition, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. The signs and symptoms of gout may appear as early as a person's teens in uromodulin-associated kidney disease.

Uromodulin-associated kidney disease causes slowly progressive kidney disease, with the signs and symptoms usually beginning during the teenage years. The kidneys become less able to filter fluids and waste products from the body as this condition progresses, resulting in kidney failure. Individuals with uromodulin-associated kidney disease typically require either dialysis to remove wastes from the blood or a kidney transplant between the ages of 30 and 70. Occasionally, affected individuals are found to have small kidneys or kidney cysts (medullary cysts).

How common is uromodulin-associated kidney disease?

The prevalence of uromodulin-associated kidney disease is unknown. It accounts for fewer than 1 percent of cases of kidney disease.

What genes are related to uromodulin-associated kidney disease?

Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. Researchers have suggested that uromodulin may protect against urinary tract infections. It may also help control the amount of water in urine.

Most mutations in the UMOD gene change single protein building blocks (amino acids) used to make uromodulin. These mutations alter the structure of the protein, preventing its release from kidney cells. Abnormal buildup of uromodulin may trigger the self-destruction (apoptosis) of cells in the kidneys, causing progressive kidney disease.

Read more about the UMOD gene.

How do people inherit uromodulin-associated kidney disease?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of uromodulin-associated kidney disease?

These resources address the diagnosis or management of uromodulin-associated kidney disease and may include treatment providers.

You might also find information on the diagnosis or management of uromodulin-associated kidney disease in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about uromodulin-associated kidney disease?

You may find the following resources about uromodulin-associated kidney disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for uromodulin-associated kidney disease?

  • Familial gout-kidney disease
  • Familial gouty nephropathy
  • Familial juvenile hyperuricemic nephropathy
  • FJHN
  • MCKD2
  • Medullary cystic kidney disease type 2
  • UMAK
  • UMOD-related kidney disease
  • Uromodulin storage disease

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about uromodulin-associated kidney disease?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding uromodulin-associated kidney disease?

acids ; apoptosis ; arthritis ; autosomal ; autosomal dominant ; cell ; cystic kidney ; cysts ; dialysis ; familial ; gene ; gout ; inherited ; juvenile ; kidney ; nephropathy ; prevalence ; protein ; teenage ; uric acid

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: December 2009
Published: February 1, 2016