Rare Oncology News

Disease Profile

Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

Q61.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

ADTKD-UMOD; Autosomal dominant medullary cystic kidney disease type 2 (former); UMOD-related ADTKD;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

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]

Symptoms

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]

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.

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

Diagnosis

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]

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

    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]

    Organizations

    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

        Learn more

        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

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • 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.
        • 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.

            References

            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; https://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.

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