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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Medullary cystic kidney disease


Other Names for this Disease

  • Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
  • MCKD
  • Medullary Cystic Disease
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Cause

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What causes medullary cystic kidney disease?

There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. Exposure to seizure medication is not a known cause medullary cystic kidney disease.
Last updated: 2/25/2014

References
  1. A. Amoroso. Autosomal dominant medullary cystic kidney disease with or without hyperuricemia. Orphanet. June 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34149. Accessed 6/7/2011.


Other Names for this Disease
  • Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
  • MCKD
  • Medullary Cystic Disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.