Autosomal dominant tubulointerstitial kidney disease
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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
Other Names (AKA)
ADTKD; Autosomal dominant medullary cystic kidney disease; MCKD;
Kidney and Urinary Diseases
- UMOD-related autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD) or uromodulin kidney disease (formerly known as UMOD-associated kidney disease,
familialjuvenile hyperuricemic nephropathy type 1, medullary cystic kidney disease type 2 (MCKD2), and uromodulin storage disease)caused by a mutationin the UMOD gene. This is the most common subtype. The age of onset varies but kidney problems are usually noted in adolescence,and may progress to end-stage renal disease (ESRD) between the fourth and seventh decades of life. High levels of uric acid in the blood (hyperuricemia) and gout (a form of arthritis), sometimes occur as early as the teenage years.
- REN-related autosomal dominant tubulointerstitial kidney disease (ADTKD-REN) (previously known as "familial juvenile hyperuricemic nephropathy type 2") caused by a mutation in the REN gene. Kidney disease is usually present in childhood. Many people with this subtype also have
anemiain childhood (even before kidney disease begins), low or low-normal blood pressure, mildly high levels of potassium in the blood (hyperkalemia), hyperuricemia and gout.
- MUC1-related autosomal dominant tubulointerstitial kidney disease (ADTKD-MUC1) or Mucin-1 kidney disease or MKD (formerly known as medullary cystic kidney disease type 1) caused by a mutation in the MUC1 gene. It is characterized by slowly progressive disease that leads to end-stage renal disease (ESRD) occurring at any age between 20 and 70 years. There are no other systemic features in addition to chronic kidney disease, although some develop gout in adulthood.
In some cases, the genetic cause of ADTKD in a family is not known. People with ADTKD of unknown cause typically do not have features in addition to chronic kidney disease (as is the case for MKD).
Inheritance of ADTKD is autosomal dominant, as the name implies. Most people with ADTKD have a
Treatment for kidney disease in people with ADTKD generally follows standard guidelines for chronic kidney disease and may involve kidney transplantation, which cures the disease. The disease does not recur in the transplanted kidney. Other treatments depend on the symptoms in each person. For example, gout may be treated with allopurinol. High meat and seafood intake could worsen gout. Treatment of anemia depends on whether it is causing symptoms. Those with ADTKD-REN are advised to avoid a low-sodium diet and non-steroidal anti-inflammatory drugs.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The differential diagnosis of ADMCKD should include diseases causing chronic progressive tubulointerstitial disease with minimal or no glomerular abnormalities.
Visit the Orphanet disease page for more information.
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.
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.
- 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. This website is maintained by the National Library of Medicine.
Mucin-1 kidney disease (medullary cystic kidney disease type 1)
Uromodulin kidney disease (medullary cystic kidney disease type 2)
ADTKD due to REN mutations
- 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.
- 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.
Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related (Uromodulin Kidney Disease)
Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related (ADTKD-REN)
Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related (Mucin-1 kidney disease)
- 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.
- 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. Click on the link to view a sample search on this topic.
- Bleyer A. Autosomal dominant tubulointerstitial kidney disease (medullary cystic kidney disease). UpToDate. Waltham, MA: UpToDate; Updated Dec. 5, 2018; https://www.uptodate.com/contents/autosomal-dominant-tubulointerstitial-kidney-disease-medullary-cystic-kidney-disease.
- Autosomal Dominant Tubulo-Interstitial Kidney Disease. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/autosomal-dominant-interstitial-kidney-disease/.
- REN-related kidney disease. Genetics Home Reference (GHR). January 2010; https://ghr.nlm.nih.gov/condition/ren-related-kidney-disease#genes.
- Bleyer AJ, Kmoch S. Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK153723/.
- Kmoch S, Zivna M, Bleyer AJ. Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related. GeneReviews. Updated Dec. 29, 2015; https://www.ncbi.nlm.nih.gov/books/NBK53700.
- 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/.