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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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Your Question

I would like to know if this disease can also cause cysts in the liver. Also, where can I obtain more information on this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is medullary cystic kidney disease?

Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. 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. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure.[1]
Last updated: 6/8/2011

Is medullary cystic kidney disease associated with cysts in the liver?

Medullary cystic kidney disease (MCKD) is not typically associated with abnormalities in organs other than the kidneys; it is, however, associated with hyperuricemia and gout.[2]

Nephronophthisis, a disorder very closely related to MCKD, is much like MCKD but differs because it is inherited in an autosomal recessive manner, typically begins in childhood or adolescence, and can be associated with abnormalities in other parts of the body. These abnormalities may include hepatic fibrosis (excessive wound healing in which excessive connective tissue builds up in the liver), as well as retinitis pigmentosa, skeletal defects, and cerebellar aplasia.[2]
Last updated: 6/8/2011

Where can I find more information about medullary cystic kidney disease?

You can find more information about this condition in the Resources section of our Web site, which can be found by clicking here.
Last updated: 6/8/2011