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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Condition Specific Organizations

Following organizations serve the condition "Medullary cystic kidney disease 1" 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 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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Reviews from the PubMed Database

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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

Romidepsin in Treating Patients With Lymphoma, Chronic Lymphocytic Leukemia, or Solid Tumors With Liver Dysfunction
 

Status: Recruiting

Condition Summary: Adult Anaplastic Astrocytoma; Adult Anaplastic Ependymoma; Adult Anaplastic Oligodendroglioma; Adult Brain Stem Glioma; Adult Ependymoblastoma; Adult Giant Cell Glioblastoma; Adult Glioblastoma; Adult Gliosarcoma; Adult Mixed Glioma; Adult Nasal Type Extranodal NK/T-Cell Lymphoma; Adult Pineal Gland Astrocytoma; Adult Solid Neoplasm; AIDS Related Immunoblastic Lymphoma; AIDS-Related Burkitt Lymphoma; AIDS-Related Diffuse Large Cell Lymphoma; AIDS-Related Diffuse Mixed Cell Lymphoma; AIDS-Related Diffuse Small Cleaved Cell Lymphoma; AIDS-Related Hodgkin Lymphoma; AIDS-Related Lymphoblastic Lymphoma; AIDS-Related Lymphoma; AIDS-Related Primary Central Nervous System Lymphoma; Anaplastic Large Cell Lymphoma; Angioimmunoblastic T-Cell Lymphoma; Cutaneous B-Cell Non-Hodgkin Lymphoma; Extensive Stage Small Cell Lung Carcinoma; Extra-Adrenal Paraganglioma; Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue; Gastrin-Producing Neuroendocrine Tumor; Hepatic Complication; Hepatosplenic T-Cell Lymphoma; Intraocular Lymphoma; Lung Carcinoid Tumor; Lymphomatous Involvement of Non-Cutaneous Extranodal Site; Male Breast Carcinoma; Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma; Metastatic Adrenal Gland Pheochromocytoma; Metastatic Gastrointestinal Neuroendocrine Tumor G1; Nasal Cavity Inverted Papilloma; Nodal Marginal Zone Lymphoma; Olfactory Neuroblastoma; Pancreatic Glucagonoma; Pancreatic Insulinoma; Pancreatic Polypeptide Tumor; Poorly Differentiated Thyroid Gland Carcinoma; Recurrent Adrenal Gland Pheochromocytoma; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Brain Neoplasm; Recurrent Adult Burkitt Lymphoma; Recurrent Adult Diffuse Large Cell Lymphoma; Recurrent Adult Diffuse Mixed Cell Lymphoma; Recurrent Adult Diffuse Small Cleaved Cell Lymphoma; Recurrent Adult Grade III Lymphomatoid Granulomatosis; Recurrent Adult Hodgkin Lymphoma; Recurrent Adult Immunoblastic Lymphoma; Recurrent Adult Lymphoblastic Lymphoma; Recurrent Adult Soft Tissue Sarcoma; Recurrent Adult T-Cell Leukemia/Lymphoma; Recurrent Bladder Carcinoma; Recurrent Breast Carcinoma; Recurrent Colon Carcinoma; Recurrent Cutaneous T-Cell Non-Hodgkin Lymphoma; Recurrent Gastrointestinal Neuroendocrine Tumor G1; Recurrent Grade 1 Follicular Lymphoma; Recurrent Grade 2 Follicular Lymphoma; Recurrent Grade 3 Follicular Lymphoma; Recurrent Hypopharyngeal Squamous Cell Carcinoma; Recurrent Inverted Schneiderian Papilloma; Recurrent Laryngeal Squamous Cell Carcinoma; Recurrent Laryngeal Verrucous Carcinoma; Recurrent Lip and Oral Cavity Squamous Cell Carcinoma; Recurrent Lip Basal Cell Carcinoma; Recurrent Mantle Cell Lymphoma; Recurrent Marginal Zone Lymphoma; Recurrent Melanoma; Recurrent Merkel Cell Carcinoma; Recurrent Metastatic Squamous Cell Carcinoma to the Neck With Occult Primary; Recurrent Mycosis Fungoides and Sezary Syndrome; Recurrent Nasal Cavity and Paranasal Sinus Squamous Cell Carcinoma; Recurrent Nasal Type NK/T-Cell Lymphoma; Recurrent Nasopharyngeal Keratinizing Squamous Cell Carcinoma; Recurrent Nasopharyngeal Undifferentiated Carcinoma; Recurrent Non-Small Cell Lung Carcinoma; Recurrent Olfactory Neuroblastoma; Recurrent Oral Cavity Adenoid Cystic Carcinoma; Recurrent Oral Cavity Mucoepidermoid Carcinoma; Recurrent Oral Cavity Verrucous Carcinoma; Recurrent Oropharyngeal Squamous Cell Carcinoma; Recurrent Oropharyngeal Undifferentiated Carcinoma; Recurrent Pancreatic Carcinoma; Recurrent Pancreatic Neuroendocrine Carcinoma; Recurrent Prostate Carcinoma; Recurrent Rectal Carcinoma; Recurrent Renal Cell Carcinoma; Recurrent Salivary Gland Carcinoma; Recurrent Small Cell Lung Carcinoma; Recurrent Small Lymphocytic Lymphoma; Recurrent Thyroid Gland Carcinoma; Refractory Chronic Lymphocytic Leukemia; Refractory Hairy Cell Leukemia; Regional Adrenal Gland Pheochromocytoma; Regional Gastrointestinal Neuroendocrine Tumor G1; Small Intestinal Lymphoma; Somatostatin-Producing Neuroendocrine Tumor; Splenic Marginal Zone Lymphoma; Squamous Cell Carcinoma Metastatic to the Neck With Occult Primary; Stage III Adult Soft Tissue Sarcoma; Stage III Bladder Cancer; Stage III Hypopharyngeal Squamous Cell Carcinoma; Stage III Laryngeal Squamous Cell Carcinoma; Stage III Laryngeal Verrucous Carcinoma; Stage III Lip and Oral Cavity Squamous Cell Carcinoma; Stage III Lip Basal Cell Carcinoma; Stage III Major Salivary Gland Carcinoma; Stage III Merkel Cell Carcinoma; Stage III Nasal Cavity and Paranasal Sinus Squamous Cell Carcinoma; Stage III Nasal Type NK/T-Cell Lymphoma; Stage III Nasopharyngeal Keratinizing Squamous Cell Carcinoma; Stage III Nasopharyngeal Undifferentiated Carcinoma; Stage III Oral Cavity Adenoid Cystic Carcinoma; Stage III Oral Cavity Mucoepidermoid Carcinoma; Stage III Oral Cavity Verrucous Carcinoma; Stage III Oropharyngeal Squamous Cell Carcinoma; Stage III Oropharyngeal Undifferentiated Carcinoma; Stage III Pancreatic Cancer; Stage III Prostate Cancer; Stage III Renal Cell Cancer; Stage III Thyroid Gland Follicular Carcinoma; Stage III Thyroid Gland Papillary Carcinoma; Stage IIIA Breast Cancer; Stage IIIA Colon Cancer; Stage IIIA Non-Small Cell Lung Cancer; Stage IIIA Rectal Cancer; Stage IIIA Skin Melanoma; Stage IIIB Breast Cancer; Stage IIIB Colon Cancer; Stage IIIB Non-Small Cell Lung Cancer; Stage IIIB Rectal Cancer; Stage IIIB Skin Melanoma; Stage IIIC Breast Cancer; Stage IIIC Colon Cancer; Stage IIIC Rectal Cancer; Stage IIIC Skin Melanoma; Stage IV Adult Soft Tissue Sarcoma; Stage IV Bladder Cancer; Stage IV Breast Cancer; Stage IV Hypopharyngeal Squamous Cell Carcinoma; Stage IV Merkel Cell Carcinoma; Stage IV Nasal Type NK/T-Cell Lymphoma; Stage IV Nasopharyngeal Keratinizing Squamous Cell Carcinoma; Stage IV Nasopharyngeal Undifferentiated Carcinoma; Stage IV Non-Small Cell Lung Cancer; Stage IV Pancreatic Cancer; Stage IV Prostate Cancer; Stage IV Renal Cell Cancer; Stage IV Skin Melanoma; Stage IVA Basal Cell Lip Carcinoma; Stage IVA Colon Cancer; Stage IVA Laryngeal Squamous Cell Carcinoma; Stage IVA Laryngeal Verrucous Carcinoma; Stage IVA Lip and Oral Cavity Squamous Cell Carcinoma; Stage IVA Major Salivary Gland Carcinoma; Stage IVA Nasal Cavity and Paranasal Sinus Squamous Cell Carcinoma; Stage IVA Oral Cavity Adenoid Cystic Carcinoma; Stage IVA Oral Cavity Mucoepidermoid Carcinoma; Stage IVA Oral Cavity Verrucous Carcinoma; Stage IVA Oropharyngeal Squamous Cell Carcinoma; Stage IVA Oropharyngeal Undifferentiated Carcinoma; Stage IVA Rectal Cancer; Stage IVA Thyroid Gland Follicular Carcinoma; Stage IVA Thyroid Gland Papillary Carcinoma; Stage IVB Basal Cell Lip Carcinoma; Stage IVB Colon Cancer; Stage IVB Laryngeal Squamous Cell Carcinoma; Stage IVB Laryngeal Verrucous Carcinoma; Stage IVB Lip and Oral Cavity Squamous Cell Carcinoma; Stage IVB Major Salivary Gland Carcinoma; Stage IVB Nasal Cavity and Paranasal Sinus Squamous Cell Carcinoma; Stage IVB Oral Cavity Adenoid Cystic Carcinoma; Stage IVB Oral Cavity Mucoepidermoid Carcinoma; Stage IVB Oral Cavity Verrucous Carcinoma; Stage IVB Oropharyngeal Squamous Cell Carcinoma; Stage IVB Oropharyngeal Undifferentiated Carcinoma; Stage IVB Rectal Cancer; Stage IVB Thyroid Gland Follicular Carcinoma; Stage IVB Thyroid Gland Papillary Carcinoma; Stage IVC Basal Cell Lip Carcinoma; Stage IVC Laryngeal Squamous Cell Carcinoma; Stage IVC Laryngeal Verrucous Carcinoma; Stage IVC Lip and Oral Cavity Squamous Cell Carcinoma; Stage IVC Major Salivary Gland Carcinoma; Stage IVC Nasal Cavity and Paranasal Sinus Squamous Cell Carcinoma; Stage IVC Oral Cavity Adenoid Cystic Carcinoma; Stage IVC Oral Cavity Mucoepidermoid Carcinoma; Stage IVC Oral Cavity Verrucous Carcinoma; Stage IVC Oropharyngeal Squamous Cell Carcinoma; Stage IVC Oropharyngeal Undifferentiated Carcinoma; Stage IVC Thyroid Gland Follicular Carcinoma; Stage IVC Thyroid Gland Papillary Carcinoma; T-Cell Large Granular Lymphocyte Leukemia; Testicular Lymphoma; Thyroid Gland Medullary Carcinoma; Thyroid Gland Undifferentiated (Anaplastic) Carcinoma; Tongue Carcinoma; Waldenstrom Macroglobulinemia

 

Last Updated: 15 Dec 2014

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