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Genetics Home Reference: your guide to understanding genetic conditions
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Medullary cystic kidney disease type 1

Reviewed June 2013

What is medullary cystic kidney disease type 1?

Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. They also reabsorb needed nutrients and release them back into the blood. As MCKD1 progresses, the kidneys are less able to function, resulting in kidney failure.

Declining kidney function in people with MCKD1 leads to the signs and symptoms of the condition. The features are variable, even among members of the same family. Many individuals with MCKD1 develop high blood pressure (hypertension), especially as kidney function worsens. Some develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. In a small number of affected individuals, the buildup of this waste product can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints.

Although the condition is named medullary cystic kidney disease, only about 40 percent of affected individuals have medullary cysts, which are fluid filled pockets found in a particular region of the kidney. When present, the cysts are usually found in the inner part of the kidney (the medullary region) or the border between the inner and outer parts (corticomedullary region). These cysts are visible by tests such as ultrasound or CT scan.

How common is medullary cystic kidney disease type 1?

MCKD1 is a rare disorder, although its prevalence is unknown.

What genes are related to medullary cystic kidney disease type 1?

MCKD1 is caused by mutations in the MUC1 gene. This gene provides instructions for making a protein called mucin 1, which is one of several mucin proteins that make up mucus. Mucus is a slippery substance that lubricates the lining of the airways, digestive system, reproductive system, and other organs and tissues and protects them from foreign invaders and other particles.

In addition to its role in mucus, mucin 1 relays signals from outside the cell to the cell's nucleus. Through this cellular signaling, mucin 1 is thought to be involved in the growth, movement, and survival of cells. Research suggests that mucin 1 plays a role in the normal development of the kidneys.

MCKD1 is caused by the insertion of a single DNA building block (nucleotide) called cytosine into the MUC1 gene. These mutations have been found in one particular region of the gene. They lead to the production of an altered protein. It is unclear how this change causes kidney disease.

Related Gene(s)

Changes in this gene are associated with medullary cystic kidney disease type 1.

  • MUC1

How do people inherit medullary cystic kidney disease type 1?

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.

Where can I find information about diagnosis or management of medullary cystic kidney disease type 1?

These resources address the diagnosis or management of medullary cystic kidney disease type 1 and may include treatment providers.

  • MedlinePlus Encyclopedia: Medullary Cystic Kidney Disease (http://www.nlm.nih.gov/medlineplus/ency/article/000465.htm)
  • Merck Manual for Health Care Professionals: Nephronophthisis and Medullary Cystic Kidney Disease Complex (http://www.merckmanuals.com/professional/genitourinary_disorders/cystic_kidney_disease/nephronophthisis_and_medullary_cystic_kidney_disease_complex.html)

You might also find information on the diagnosis or management of medullary cystic kidney disease type 1 in Educational resources (http://www.ghr.nlm.nih.gov/condition/medullary-cystic-kidney-disease-type-1/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/medullary-cystic-kidney-disease-type-1/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook.

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about medullary cystic kidney disease type 1?

You may find the following resources about medullary cystic kidney disease type 1 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 medullary cystic kidney disease type 1?

  • autosomal dominant interstitial kidney disease
  • autosomal dominant medullary cystic kidney disease
  • polycystic kidneys, medullary type

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about medullary cystic kidney disease type 1?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding medullary cystic kidney disease type 1?

arthritis ; autosomal ; autosomal dominant ; cell ; CT scan ; cystic kidney ; cysts ; cytosine ; digestive ; digestive system ; DNA ; end-stage renal disease ; fibrosis ; gene ; gout ; hypertension ; insertion ; kidney ; mucus ; nucleotide ; nucleus ; prevalence ; protein ; renal ; renal disease ; stage ; ultrasound ; uric acid

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10. (http://www.ncbi.nlm.nih.gov/pubmed/23396133?dopt=Abstract)
  • Kiser RL, Wolf MT, Martin JL, Zalewski I, Attanasio M, Hildebrandt F, Klemmer P. Medullary cystic kidney disease type 1 in a large Native-American kindred. Am J Kidney Dis. 2004 Oct;44(4):611-7. (http://www.ncbi.nlm.nih.gov/pubmed/15384011?dopt=Abstract)
  • Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int. 2002 Oct;62(4):1385-94. Erratum in: Kidney Int 2002 Nov;62(5):1920.. (http://www.ncbi.nlm.nih.gov/pubmed/12234310?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2013
Published: July 7, 2014