Medullary cystic kidney disease

Common Name(s)

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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" returned 11 free, full-text research articles on human participants. First 3 results:

Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease.
 

Author(s): Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang

Journal: Chin. Med. J.. 2017 Oct;130(20):2459-2464.

 

Medullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat ...

Last Updated: 31 Dec 1969

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Rapidly Progressive Renal Dysfunction in Two Elderly Patients with Renal Enlargement and Medullary Cystic Kidney Disease-like Acute Tubulointerstitial Injury.
 

Author(s): Shinya Kawamoto, Ryo Koda, Atsunori Yoshino, Tetsuro Takeda, Yoshihiko Ueda

Journal: Intern. Med.. ;55(20):3001-3007.

 

Medullary cystic kidney disease (MCKD) is a hereditary disease associated with bilateral medullary polycysts and interstitial fibrosis. MCKD is typically associated with slowly progressive renal dysfunction. We herein report two rare elderly cases with enlarged kidneys and rapidly ...

Last Updated: 31 Dec 1969

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Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
 

Author(s): Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd, John R Kelsoe, Gerald Hladik, Philip Klemmer, Stephen J Knohl, Steven J Scheinman, Nam Vo, Ann Santi, Alese Harris, Omar Canaday, Nelson Weller, Peter J Hulick, Kristen Vogel, Frederick F Rahbari-Oskoui, Jennifer Tuazon, Constantinos Deltas, Douglas Somers, Andre Megarbane, Paul L Kimmel, C John Sperati, Avi Orr-Urtreger, Shay Ben-Shachar, David A Waugh, Stella McGinn, Anthony J Bleyer, Katerina Hodanová, Petr Vylet'al, Martina Živná, Thomas C Hart, P Suzanne Hart

Journal: Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35.

 

The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a protein that is present in skin, breast, and lung tissue, the gastrointestinal tract, ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Medullary cystic kidney disease" returned 2 free, full-text review articles on human participants. First 3 results:

The quest for the gene responsible for medullary cystic kidney disease type 1.
 

Author(s): Daniel G Bichet, T Mary Fujiwara

Journal: Kidney Int.. 2004 Aug;66(2):864-5.

 

Last Updated: 31 Dec 1969

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Molecular genetics of nephronophthisis and medullary cystic kidney disease.
 

Author(s): F Hildebrandt, E Otto

Journal: J. Am. Soc. Nephrol.. 2000 Sep;11(9):1753-61.

 

Nephronophthisis (NPH) and medullary cystic kidney disease (MCKD) constitute a group of renal cystic diseases that share the macroscopic feature of cyst development at the corticomedullary border of the kidneys. The disease variants also have in common a characteristic renal histologic ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 18 Sep 2018

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