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Medullary Cystic Kidney Disease Type II

MedGen UID:
882383
•Concept ID:
C4054550
•
Disease or Syndrome

Definition

An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMedullary Cystic Kidney Disease Type II

Professional guidelines

PubMed

Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.
Zerres K, Völpel MC, Weiss H
Hum Genet 1984;68(2):104-35. doi: 10.1007/BF00279301. PMID: 6500563

Recent clinical studies

Etiology

Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells.
Staubach S, Wenzel A, Beck BB, Rinschen MM, Müller S, Hanisch FG
Proteomics 2018 Apr;18(7):e1700456. Epub 2018 Mar 13 doi: 10.1002/pmic.201700456. PMID: 29436780

Diagnosis

From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.
Venkat-Raman G, Gast C, Marinaki A, Fairbanks L
Pediatr Nephrol 2016 Nov;31(11):2035-42. Epub 2016 Feb 12 doi: 10.1007/s00467-015-3308-y. PMID: 26872483
Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.
Zerres K, Völpel MC, Weiss H
Hum Genet 1984;68(2):104-35. doi: 10.1007/BF00279301. PMID: 6500563

Therapy

From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.
Venkat-Raman G, Gast C, Marinaki A, Fairbanks L
Pediatr Nephrol 2016 Nov;31(11):2035-42. Epub 2016 Feb 12 doi: 10.1007/s00467-015-3308-y. PMID: 26872483

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