National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations


Other Names:
ADTKD-UMOD; Autosomal dominant medullary cystic kidney disease type 2 (former); UMOD-related ADTKD; ADTKD-UMOD; Autosomal dominant medullary cystic kidney disease type 2 (former); UMOD-related ADTKD; Autosomal dominant medullary cystic kidney disease type 2; MCKD2; UMOD-related autosomal dominant tubulointerstitial kidney disease; Familial juvenile hyperuricemic nephropathy type 1; Medullary cystic kidney disease 2 (former); Familial Juvenile Hyperuricemic Nephropathy 1; UMOD-Associated Kidney Disease; Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related; Uromodulin kidney disease; Uromodulin-associated kidney disease; ADTKD due to UMOD mutations See More
Categories:
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD–UMOD) is an inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. Gout is a form of arthritis (inflammation) that occurs often in the big toe, ankle, knee, or other joints.[1][2][3] ADTKD-UMOD is caused by a mistake (mutation) in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. ADTKD-UMOD is inherited in a dominant pattern in families. It is diagnosed based on the symptoms, laboratory testing, family history and genetic testing. Many of the symptoms of ADTKD-UMOD can be treated with medication. For patients whose kidney function worsens to end-stage kidney disease, kidney transplant and dialysis can be used. The long-term outlook for people with ADTKD-UMOD is good, though patients may require dialysis or kidney transplantation between the ages of 30 and 70.[1][2]
Last updated: 3/4/2019
The most common symptom of autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is gout occurring in the teenage or young adult years. Gout may not occur in all patients. Bed wetting (enuresis) is a little more common in individuals with ADTKD-UMOD than the general population. Kidney disease is identified by an increase in the blood creatinine level. This is usually detected in the teenage years, but may start at any age.[1][2][3]
Last updated: 3/4/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Gout 0001997
Hyperuricemia
High blood uric acid level
0002149
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Nephritis
Kidney inflammation
0000123
Nephropathy 0000112
Progressive
Worsens with time
0003676
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Renal tubular atrophy 0000092
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Last updated: 7/1/2020
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is inherited in an autosomal dominant pattern.[4][2] All individuals inherit two copies of each gene. In autosomal dominant conditions, having a mutation in just one copy of the associated (UMOD) gene causes the person to have the disease. Some people are born with an autosomal dominant condition due to a new genetic mutation (de novo) and do not have a history of this condition in their family. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.

Each child of an individual with ADTKD-UMOD has a 50% or 1 in 2 chance of inheriting the UMOD mutation and ADTKD-UMOD. Children who inherit the UMOD mutation will have ADTKD-UMOD, although they could be more or less severely affected than their parent.

Last updated: 3/4/2019
The diagnosis of autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is made based on the symptoms, specific laboratory tests, a family history of kidney disease and gout, and genetic testing.[2]
Last updated: 3/4/2019

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment for autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is based on managing the symptoms. Gout can be prevented with medications such as allopurinol and febuxostat. At present, there are no specific treatments for worsening kidney function. Eventually, patients may need a kidney transplant or dialysis. Live donor kidney transplantation is the optimal treatment for worsening kidney disease, and patients who undergo kidney transplant for this condition do extremely well. The condition does not come back in the transplanted kidney.[3]
Last updated: 3/4/2019
The long-term outlook for people with autosomal dominant tubulointerstitial kidney disease due to UMOD mutations is good, though patients will often need a kidney transplant or start dialysis between the ages of 30 and 70.[1] At this point, it is difficult to predict at what age patients will develop end-stage kidney failure.
Last updated: 3/4/2019
The exact prevalence of autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is unknown. One study found the prevalence in Austria to be about 1-2 cases per million people.[5] Less than 1% of people with kidney disease have ADTKD-UMOD.[4]
Last updated: 3/4/2019

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations. Click on the link to view a sample search on this topic.

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  1. Autosomal Dominant Tubulo-Interstitial Kidney Disease. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/autosomal-dominant-interstitial-kidney-disease/.
  2. Bleyer AJ, Hart PS, Kmoch S. Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related. GeneReviews. June 30, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1356/.
  3. Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Kidney Disease: Improving Global Outcomes. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney Int. Oct 2015; 88(4):676-683. https://www.ncbi.nlm.nih.gov/pubmed/25738250.
  4. Uromodulin-associated kidney disease. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/uromodulin-associated-kidney-disease.
  5. Devuyst O, Olinger E, Rampoldi L. Uromodulin: from physiology to rare and complex kidney disorders.. Nat Rev Nephrol. Sep 2017; 13(9):525-544. https://www.ncbi.nlm.nih.gov/pubmed/28781372.