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.

Medullary cystic kidney disease has an autosomal dominant pattern of inheritance.

• MCKD1 has been associated with chromosome 1, but not a specific gene yet.^[1]
• MCKD2 has been associated with UMOD on chromosome 16.^[2]

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

1. ^ 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. 
2. ^ 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.