Medullary cystic kidney disease
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| Medullary cystic kidney disease | |
|---|---|
| Specialty | Medical genetics  |
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.
- MCKD1 has been associated with chromosome 1, but not a specific gene yet.[1] Research by Kirby A et al suggest that mutations in the VNTR of the human mucin MUC1 are associated with MCKD1 [2]
- MCKD2 has been associated with UMOD on chromosome 16.[3]
See also
External links
- 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
References
- ^ 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.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - ^ 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. PMID 23396133.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - ^ Hart TC, Gorry MC, Hart PS; et al. (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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