Medullary cystic kidney disease
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|Medullary cystic kidney disease|
|Classification and external resources|
Medullary cystic kidney disease is an autosomal dominant kidney disorder characterized by cysts in both kidneys and tubulointerstitial sclerosis leading to end-stage renal disease. The kidney disease nephronophthisis is in the classification of this disorder. Importantly, cysts are found in the medullary collecting ducts, which results in a shrunken kidney, unlike that of polycystic kidney disease.
- MCKD1 has been associated with chromosome 1, but not a specific gene yet. Research by Kirby A et al. suggest that mutations in the VNTR of the human mucin MUC1 are associated with MCKD1 
- MCKD2 has been associated with UMOD on chromosome 16.
- GeneReviews/NCBI/NIH/UW entry on UMOD-Related Kidney Disease Includes: Familial Juvenile Hyperuricemic Nephropathy, Medullary Cystic Kidney Disease 2
- OMIM entries on UMOD-Related Kidney Disease Includes: Familial Juvenile Hyperuricemic Nephropathy, Medullary Cystic Kidney Disease 2
- Scolari F, Viola BF, Ghiggeri GM et al. (2003). "Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease". J. Nephrol. 16 (3): 321–8. PMID 12832729.
- Kirby A, Gnirke A, Jaffe DB et al. (2013). "Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing". Nat Genet 45 (3): 299–303. doi:10.1038/ng.2543. PMID 23396133.
- Hart TC, Gorry MC, Hart PS et al. (December 2002). "Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy". J. Med. Genet. 39 (12): 882–92. doi:10.1136/jmg.39.12.882. PMC 1757206. PMID 12471200.
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