Medullary cystic kidney disease
Medullary cystic kidney disease Classification and external resources ICD-9 753.16 OMIM 174000 603860 DiseasesDB 29224 MedlinePlus 000465 eMedicine ped/1393
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.
- 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.
- ^ 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. http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=12471200.
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