Medullary cystic kidney disease 1

Common Name(s)

Medullary cystic kidney disease 1

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Medullary cystic kidney disease 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Medullary cystic kidney disease 1" returned 4 free, full-text research articles on human participants. First 3 results:

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
 

Author(s): Andrew Kirby, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James T Robinson, Moran N Cabili, Irit Gat-Viks, Edward Kelliher, Riza Daza, Matthew DeFelice, Helena Hůlková, Jana Sovová, Petr Vylet'al, Corinne Antignac, Mitchell Guttman, Robert E Handsaker, Danielle Perrin, Scott Steelman, Snaevar Sigurdsson, Steven J Scheinman, Carrie Sougnez, Kristian Cibulskis, Melissa Parkin, Todd Green, Elizabeth Rossin, Michael C Zody, Ramnik J Xavier, Martin R Pollak, Seth L Alper, Kerstin Lindblad-Toh, Stacey Gabriel, P Suzanne Hart, Aviv Regev, Chad Nusbaum, Stanislav Kmoch, Anthony J Bleyer, Eric S Lander, Mark J Daly

Journal: Nat. Genet.. 2013 Mar;45(3):299-303.

 

Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the simple mendelian disorder medullary ...

Last Updated: 26 Feb 2013

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Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1.
 

Author(s): Christoforos Stavrou, C Constantinou Deltas, Tasos C Christophides, Alkis Pierides

Journal: Nephrol. Dial. Transplant.. 2003 Oct;18(10):2165-9.

 

Autosomal dominant medullary cystic kidney disease (ADMCKD) is an inherited, distinct, chronic, tubulointerstitial, cystic-type nephropathy, often described together with juvenile nephronophthisis as a single disease complex (NPH-MCD). However, since the recent localization of two ...

Last Updated: 18 Sep 2003

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Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.
 

Author(s): Christoforos Stavrou, Michael Koptides, Christos Tombazos, Evlalia Psara, Charalambos Patsias, Ioanna Zouvani, Kyriacos Kyriacou, Friedhelm Hildebrandt, Tasos Christofides, Alkis Pierides, C Constantinou Deltas

Journal: Kidney Int.. 2002 Oct;62(4):1385-94.

 

Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, NPHP2 and NPHP3 for familial juvenile nephronophthisis (NPH) and MCKD1 and ...

Last Updated: 17 Sep 2002

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The terms "Medullary cystic kidney disease 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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