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Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations


Other Names:
MCKD1; Medullary cystic kidney disease type 1; MUC1-related autosomal dominant medullary cystic kidney disease; MCKD1; Medullary cystic kidney disease type 1; MUC1-related autosomal dominant medullary cystic kidney disease; MUCI-related ADTKD; MUC1-related autosomal dominant tubulointerstitial kidney disease; Medullary cystic kidney disease 1 (former); Mucin-1 kidney disease; ADTKD due to MUC1 mutations; ADTKD-MUC1; Autosomal dominant tubulointerstitial kidney disease, MUC1-associated See More
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Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is an inherited disorder that causes a gradual loss of kidney function.  This may lead to the need for dialysis or kidney transplant usually between the ages of 30 and 70.[1][2] This condition is not associated with any symptoms outside of the kidney. ADTKD-MUC1 is caused by a mistake (mutation) in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function[3] ADTKD-MUC1 is inherited in families in an autosomal dominant pattern. It is diagnosed based on laboratory testing, family history and genetic testing. Kidney failure may be treated with dialysis and kidney transplant. ADTKD-MUC1 is very rare. Some patients may do well for a long time without any symptoms and may not require kidney transplant or dialysis until later in life.[1][2][3]
Last updated: 3/4/2019
The symptoms of autosomal dominant tubulointerstitial kidney disease, due to MUC1 mutations (ADTKD-MUC1) are all related to chronic kidney disease. Kidney disease typically starts in the late teens to early 20s and gets worse until the kidneys stop working (end-stage renal disease). In early-stage chronic kidney disease, there are no symptoms. Laboratory testing may show an increase in serum creatinine.  At a later stage, kidney disease may lead to high blood pressure, anemia, and gout. Gout is a painful arthritis due to high blood uric acid levels. In very advanced kidney disease (right before the need for dialysis or kidney transplant), patients can develop loss of appetite, nausea and fatigue.[1][2][4]
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.

Showing of 21 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Anemia
Low number of red blood cells or hemoglobin
0001903
Autosomal dominant inheritance 0000006
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Decreased glomerular filtration rate 0012213
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine
[ more ] 		0003259
Glomerulosclerosis 0000096
Gout 0001997
Hypertension 0000822
Hyperuricemia
High blood uric acid level
0002149
Hypotension
Low blood pressure
0002615
Impaired renal uric acid clearance 0004732
Renal cortical atrophy 0002048
Renal corticomedullary cysts 0000108
Renal hypoplasia
Small kidneys
Underdeveloped kidneys
[ more ] 		0000089
Renal salt wasting
Loss of salt in urine
0000127
Renal tubular atrophy 0000092
Stage 5 chronic kidney disease 0003774
Tubular basement membrane disintegration 0005583
Tubulointerstitial fibrosis 0005576
Tubulointerstitial nephritis 0001970
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Last updated: 7/1/2020
Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is caused by a mistake (mutation) in the MUC1 gene, which is responsible for making a protein called mucin 1. Mucin1 is involved in the growth and movement of cells, and in the development of the kidneys.  In this condition, the mutation in the MUC1 gene leads to the creation of an abnormal MUC1 protein. This abnormal protein deposits within cells of the kidney and leads to slow break down of these cells and the loss of kidney function. While the abnormal protein is made throughout the body, it only causes problems in the kidney.[3]
Last updated: 3/4/2019
Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is inherited in an autosomal dominant pattern.[1][3]  All individuals inherit two copies of each gene. In autosomal dominant conditions, having a mutation in just one copy of the associated (MUC1) 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, although this is very rare in ADTKD-MUC1. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the MUC1 mutation and ADTKD-MUC1.  Offspring who inherit the MUC1 mutation will have ADTKD-MUC1. The age of onset of kidney failure may be different between an affected parent and their children.

Last updated: 3/4/2019
The diagnosis of autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is made based on an elevated creatinine level in the blood, a family history of kidney disease and genetic testing.[4][5] The urinalysis in patients with ADTKD-MUC1 usually shows no blood and very little protein, which is different from most types of kidney disease.
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.
The treatment of autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is based on managing the symptoms. High blood pressure can be treated with medications. Anemia can be treated with the use of medications such as erythropoietin. Gout can be treated with the medications allopurinol or febuxostat.  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 [4][5]
Last updated: 3/4/2019
The long-term outlook for people with autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADKTD-MUC1) is good, though patients will often need a kidney transplant or start dialysis between the ages of 30 and 70. At this point, it is difficult to predict at what age patients will develop end-stage kidney failure.[1]
Last updated: 3/4/2019
Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is very rare and has been reported in about 100 families in the US.[1]
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.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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 contains information on Autosomal dominant tubulointerstitial kidney disease due to MUC1 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 MUC1 mutations. Click on the link to view a sample search on this topic.

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  1. Bleyer AJ, Kmoch S. Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK153723/.
  2. Autosomal dominant tubule-interstitial kidney disease. National Organization for Rare Disorders (NORD). Updated 2017; https://rarediseases.org/rare-diseases/autosomal-dominant-interstitial-kidney-disease/.
  3. Medullary cystic kidney disease, type 1. Genetics Home Reference (GHR). Jun 2013; https://ghr.nlm.nih.gov/condition/medullary-cystic-kidney-disease.
  4. 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.
  5. 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.